MTHFR Mutations and Congenital Heart Defects

179 Comments:

• At Fri Apr 20, 05:11:00 PM 2007,  Anonymous said…

  hi, my name is tatiana and my son was recently diagnose with compound heterozygous mthfr gene mutation, he is only 7 years old and the doctors don'y really understand why he has this so young, about a week ago one of hus lungs stop working because it wasn't receiving blood so they were treading him with tpa and then he went home on cumadin and not even seven days later he came back to the hospital and he has more clugs in his lungs even though he was on cumadin, noe they just recently installed a filter to stop the clugs of blood to go to his lungs, my concern is that the doctors here say that he has no cure. I am really concern and I will like to know what other options I have.. cand you help???

   

• At Thu Apr 26, 05:59:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Tatiana. I am sorry, but your son appears to have a very serious problem that may be much more than just his MTHFR gene mutations (that cannot be cured). Have you taken him to a specialist in hematology at a major research center. If not, you need to consider that ASAP. I wish both of you the best and sorry I cannot help you.

   

• At Sat May 26, 09:50:00 PM 2007,  Anonymous said…

  Hi, I'm Sheila. In 2004 I had blood work (dt 4 past miscarraiges) that showed a low positive (15) for Anticardiolipin IGM, and Homozygous C677T MTHFR mutation (sample shows 2 copies of the MTHFR C677T mutation and is - for A1298C) homocysteine levels are normal, genetic Kareotyping tests done in 2006 also came back normal. I was on Foltex and prenatal vinamins for over a yr prior to becoming preg. The OB didn't prescribe Lovenox as advised by a hematologist. I lost the baby, changed OBs and soon became Preg. again with early use of Lovenox and cont with other vitamins. I declined the triple screen & upon birth found out my baby has Down's, she has no cardiac problems & is actually developing very well (12 mos and saying and singing mama & dada, says bubba, boo and yea)! Are these blood disorders related, or just a strange coincidence. I've seen studies regarding MTHFR & Down's? Also should I find a PCP and have blood work up to chk for cardiovascular disease ~ I feel like a healthy 32 y/o?
  PS: I wouldn't mind having another baby with Down's, but my husband is afraid of the baby having a heart defect and 'not making it'.
  Any input would be welcome, thanks!

   

• At Tue May 29, 07:40:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Sheila. Thanks for writing! Although there are some differences of opinion on the topic, there does appear to be an association between MTHFR polymorphisms and the risk for chromosomal nondysjunction that leads to Down syndrome. This is a fascinating subject and I will do a review of the recent literature and mention your case in a full post on the topic, if you don't mind. If you do decide to get pregnant again, consider taking high-dose folic acid (4-6mg) per day for awhile before conceiving. By the way, if your homocysteine levels are normal, you probably are not at extraordinary risk for cardiovascuar complications if you continue to eat right, get exercise and take your folic acid! You still might want to find a good hematologist or cardiologist to discuss your actual risks. Do you know what your homocysteine levels were before you started taking folic acid supplements?

   

• At Mon Jun 11, 04:23:00 PM 2007,  Anonymous said…

  hello, my name is Tiffany and I am trying to find out information for some dear friends that recently lost their infant son. The mother was 8 months pregnant and they knew that the baby had heart problems, only two valves formed, and he also had a defect in his arm and hand being small and bent to the side. I do not think that she was ever given anything else to take other than prenatal vitamins during her pregnancy. She ended up loosing the baby at 8 months. They refused to have an autopsy on the infant after she gave birth. I do not know whether or not she is MTHFR Heterozygous or if the baby was, all they gave me was a paper that the doctor had written MTHFR on after she had an amnio at about 21 weeks. I think that they are going to some sort of genetics doctor soon to see if they should try to have more children or seek other options of adopting, ect. I know that they did run tests on the placenta after the delivery and said that one of the genetic markers on it was not normal. They take news from my husband and I much better because it is a lot to digest when you are sitting in front of a bunch of doctors, so any info or advice for me to help them or tell them to try to have more kids or what kind of doctors that they need to seek help from would be greatly appreciated! Thanks so much!
  Tiffany Daly
  tadpole06@hotmail.com

   

• At Tue Jun 12, 06:59:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Tiffany, I am sorry, but you haven't given me enough information to even begin to respond. I cannot tell from your description if this is a chromosomal problem, a syndromic problem, or a genetic/metabolic problem, or perhaps even the result of exposure to something in the environment. I think the best thing will be for the couple to sit and talk with the Genetic counselor. Those folks are really great at putting all the pieces together and explaining it in terms you can, hopefully, understand. If they (or you) have any questions at that point, I will be glad to try to help everyone understand. Thanks for reading.

   

• At Thu Jun 28, 07:25:00 PM 2007,  Anonymous said…

  Dear Dr: My Name is Lisa. My husband and I are planning to become pregnant in the next month with the help of our team at a fertility center. Some of my blood work came back with two mutations for MTHFR C677T AND A1298C. I have been searching the web for more information so that I can be well informed and have questions ready for my Drs the next time I meet with them. They have already started me on suppliments of folic acid 1mg three times a day. They are planning invitro with me mid August. Should we be waiting longer so that I will be on the folic acid for a longer period of time? Can you make some suggestions for further reading and or questions I should be asking.
  
  Thank you Lisa

   

• At Sun Jul 01, 02:50:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Lisa: I wrote several posts at the end of May and into June related to MTHFR polymorphisms and risk for Down syndrome. You could start reading there. By the way, were your homocysteine levels elevated? I am alsocurious to know about why you and your spouse have infertility problems. Is this related to inability to conceive or to recurrent pregnancy losses? Did you have any other identifiable problems? Anyway, based on what you have told me, you don't need to wait longer than August to begin the IVF process. That dose of folic acid should be adequate to reduce your risks for congenital heart disease, neural tube defects, and other abnormalities thought to be secondary to abnormalities of folate metbolism! Good luck. I wish you everything but TWINS! Thanks for reading.

   

• At Tue Jul 03, 07:43:00 AM 2007,  Anonymous said…

  Hello. My name is Amber. I have had 2 miscarriages in the last 6 months. I have been tested for the MTHFR which resulted in 2 mutations, C677T and A1298C. One copy of the C677T mutation and one copy of the A1298C mutation. Population data suggests that these two mutations are not present on the same chromosome. I had further testing on my homocysteine levels that came back as 7.8 level. I am wondering if you suggest anything like baby aspirin or extra folic acid? How long do I have to be on the aspirin or folic acid before we start trying to have another baby?
  Thank you!

   

• At Tue Jul 03, 11:07:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Amber: Personally, if you were one of my patients, I would place you on a baby aspirin (81 mg) per day, a prenatal vitamin, and 4 mg (4000 mcg) of folic acid daily for a month before conceiving. Continue that regimen at least through first trimester. Good luck and thanks for reading.

   

• At Mon Jul 23, 03:51:00 PM 2007,  Laura said…

  Hello Dr. Trofatter,
  
  First of all, I must say thank you for everything you've done for those of us with MTHFR diagnoses. Your advice and research have been most helpful during a stressful and uncertain time.
  
  Anyway, I have two sisters and we have the same parents. My youngest sister, who is 33yo, and I were both trying to get pregnant (she for ~ two years, me ~ 4 months). My sister had 2 recurrent miscarriages, at 6wks 4days and 9wks 4days respectively. I too had a miscarriage (at approx 8wks), but it was over 10 years ago (I'm currently 36yo) I went to see my OB who ran several tests, to include progesterone. The progesterone test came back at 5.63, so my OB put me on 50mg Clomid on days 5-9 to raise my progesterone. The next month we retested and it came back at 12.09 (again tested days 5-9). My OB recommended another round of Clomid at 50mg, which I took. In the meantime, my sister underwent genetic counseling for her recurrent m/cs. She learned that she was homozygous for the C677T MTHFR mutation, and that her progesterone was low too (approx 7.5). I scheduled a MTHFR test, and while I was talking to the nurse she told me that I should've had my cycle and if not, to take a pregnancy test. It came back positive. Believe it or not, my sister found out that she was pregnant again too, and her doctor immediately put her on 600mg Prometrium 3x/day (as a suppository), a 60mg shot of Lovenox 1x/day, and Meta-NX (folic acid, b12 and b6) with a prenatal vitamin. My OB gave me the MTHFR blood test, put me on 100mg Prometrium 2x/day taken orally, 3.2mg folic acid + Duet prenatal vitamins (w/ 1mg folic acid), a baby aspirin, and vitamins b6 and b12 as a preventive measure while waiting for my MTHFR test results.
  
  I just got my MTHFR test results today (10 days later) and I was diagnosed as being compound heterozygous for the C677T mutation and the A1298C mutation. My doctor asked me to come in right away, and put me on 40mg Lovenox 1x/day. My sister and I are both approximately 5.5 weeks pregnant and scared silly....
  
  My questions are these:
  1. How common is it to see low progesterone and MTHFR mutations together?
  2. Do you concur with our doctor's regimens?
  3. What are our chances of having babies with congenital heart defects, Down's syndrome, or Neural Tube Disorders?
  4. Do you have any observations or recommendations? Can you direct us to any resources for more information about what we can expect?
  
  I must also tell you about my other sister....she has 3 kids, two of which were born with congenital heart defects and were diagnosed with Alagille's syndrome. (Their father is a known carrier.) The girls have Tetraology of Fallot and Pulmonary Atresia. This sister has not yet been tested for MTHFR inasmuch as we only very recently learned we carry these mutations.
  
  Your observations, thoughts, and input would be gratefully and sincerely appreciated more than you know!
  
  Sincerely, Laura

   

• At Thu Aug 09, 06:09:00 PM 2007,  Anonymous said…

  Hi, My name is Deborah. About 3 years ago I had a miscarriage. One month later became pregnant with my daughter. I had a full term healthy pregnancy. Now three years later I have had two simultaneous miscarriages. My doctor decided to do some genetic testing. I came up positive for MTHFR Mututation (C677T). He informed me I DO NOT have A1298C. All three miscarriages that I have had were all low progesterone levels. My first miscarriage was 5.0 level, 2nd miscarriage (two months ago) was 2.5 and in July the level was also 2.5. However, my pregnancy with my daughter had normal levels of progesterone. They did put me on suppository just to be safe with not having my levels go down.
  
  In one month I am going to start trying again. My doctor has the following plan: On my 14th day Prometrium pill and take it until I my cycle ends. If no period keep taking. If I do get my period stop and start again one month later the same procedure.
  
  How effective will this be and does the progesterone and MTHFR have a link to each other. What will possibly happen to my next child due to my mutation with this gene. Is this really linked to Down's and other disorders.
  
  If I do not have A1298C, how does this factor in on any problems?

   

• At Tue Aug 14, 05:51:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Deborah Aug 9: It sounds like uou only have a single MTHFR C677T gene. The women at greatest risk for babies with congenital heart defects, neural tube defects, and Down syndrome are those that have two abnormal MTHFR genes. As far as I know, there is no association between having a single MTHFR abnormality and abnormal production of progesterone, so these are likely to be separate issues. Since the decreased activity of C6677T can usually be overcome by folate supplementation, it sounds like your doctors have chosen the right path to reduce any small risk you might have related to this. There plan to supplement with progesterone in the manner you have described is also very reasonable. If you are still not successful, other factors may be in play, but it appears you are in VERY good hand to help you accomplish your goal of another baby! If you want a little more information related to MTHFR abnormalities, I wrote a brief series starting May 30 2007 with the first article linked below: http://www.healthline.com/blogs/pregnancy_childbirth/2007/05/down-syndrome-and-folate-metabolism.html
  Best wishes and thanks for reading and for the good questions! Dr T

   

• At Sun Aug 26, 01:41:00 PM 2007,  Anonymous said…

  Hi, my name is Brandy. In the last 2 1/2 my husband and I have had many complications trying to start our family. after fining the right specialist they have discoverd that i have level 3 endometriosis, polycystic ovarian syndrom and 2 mutations of MTHFR (C677t and A1298C). Right now I am taking injections of Leupron, Metformin, 5mg of Folic Acid and many other vitamins. After the Leupron we are going to try IVF and start on Lovenox. In your oppinion, are we on the right track for a successful pregnancy? Is there anything elae that I should ask my doctor about?

   

• At Mon Aug 27, 06:04:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Brandy Aug 26: It sounds like you are in VERY good hands. Hope things turn out well and thanks for your comment! Dr T

   

• At Sun Sep 02, 09:30:00 PM 2007,  Anonymous said…

  My daughter was diagnosed with MTHFR gene mutation during a blood test before putting her on birth control because of family history of blood clotting disorders (I have anitphospholipid anitbody syndrome),Lupus, and have had three strokes, 1 miss carriage, and I also almost lost her because of huge blood clots in the womb during pregnancy; I was tested every day to make sure that she was alive in the womb because she could not move in the womb because ther was so many blood clots)my question is will she need to take foltx for the rest of her life (she is 18). She inatially went to the obgyn because she kept passing out during the week prior to starting her menstral cycle and also migranes. as long as she takes the foltx she does not seem to have these problems. Also if she decided in the future to have children should she see a specialist.

   

• At Tue Sep 04, 08:06:00 PM 2007,  Phuong said…

  I had 2 miscarriages in 6 months (7 wks, and 8 weeks with 2 normal periods in between). was told I was heterogygous C677T MTHFR...no elevated homocystine level which I didn't test after fasting...doctor did not seem too concern about preparing for my next pregnancy..did not advise to take baby aspirin, extra folic acid, or prenatal vitamins..he just said to do lovenox injections daily once I find out I'm pregnant...should I take all baby aspirin, extra folic acid, or prenatal vitamins as a precautionary thing prior to conceiving..I'd like to get pregnant in the next 2 months???

   

• At Fri Sep 07, 05:23:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Sept 2: Having the antiphospholipid antibody syndrome is MUCH different than having a MTHFR mutation. YOU need to be on anticoaguation therapy the rest of your life. If your daughter was worked up because of your history, and the ONLY thing found at this point is a MTHFR polymorphism, she is probably at fairly low risk for the sort of complications you have had. I will caution you though, autoimmune conditions also run in families! By the way, do you know if she had one or two MTHFR mutations? Many people carry one and have a low risk for problems, even on oral contraceptives. Also, do you know if they checked a homocysteine level on her? If that is also normal, again her risk for problems related to thrombosis and complications during pregnancy is probably no higher than the general population. Regardless, there is probably no harm taking the foltex. I wish more young women were on supplemental folic acid before they think about getting pregnant. Tell her to relax, and if you want a good 'second opinion' regarding her risks, find a local hematologist. Thanks for reading! Dr T

   

• At Fri Sep 07, 05:35:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Phuong Sept 4: I don't like to second guess your doctor under these circumstances. He/she may know more about you than you have told me (or they have told you). If you have been thoroughly worked up and no other risk factors were found except the single MTHFR polymorphism, and were one of my patients, I would probably place you on the baby aspirin, prenatal vitamin, and extra folic acid (2-4 mg daily)BEFORE conception and ask you to consider trying a pregnancy on that alone. Lovenox is VERY expensive! If you lost another pregnancy early, you culd undergo a work-up for other 'risk factors' for which you have not yet been evaluated or simply add the Lovenox (or heparin - much less expensive)to the treatment regimen above and try again. Thanks for reading and for a good question. Best of luck to you next time! Dr T

   

• At Fri Sep 07, 08:17:00 PM 2007,  Phuong said…

  Thank you very much for responding to my questions. I hope you can answer the following more:
  After 2 repeated miscarriage and living in a small town in upstate NY, there are not alot of options for doctors. Do you consider me a "high risk" pregnancy candidate and should look for more of a specialist to help me achieve a successful pregnancy? I really don't think I can handle a 3rd miscarriage as I'm already 33 years old. Also, do I need a prescription for baby aspirin? I still have my old prescription for prenatal vitamins..when I run out, will a doctor prescribe prenatal vitamins without being pregnant? Is the only negative to Lovenox is that it's Expensive? no side effects or genetic defects increases? Or do you just want to see if I can have a healthy pregnancy without the lovenox as that may not be necessary with a single mutation of C677T MTHFR? Please help...I feel very confused...

   

• At Thu Sep 13, 05:08:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Phuong Sept 7: At this time I do not think you need a pregnancy specialist in Maternal-Fetal Medicine because a single MTHFR polymorphism by itself does not place yopu in a terribly "high risk" category. You can buy baby aspirin 81 mg over the counter. You can even buy a prenatal vitamin over the counter, but I would ask your doctor for that and for a prescription for folic acid 4 mg per day. The only real drawback to the Lovenox is that it is VERY expensive and I am not really sure you need it. Since your doctor was probably planning to use only prophylactic (low-dose)therapy, neither you or the baby will be at much risk from Lovenox. It is a low-molecular weight heparin and even at that, is too large to cross the placenta to the baby. I mentioned prohylactic (low-dose) heparin as an alternative to the Lovenox because it is MUCH less expensive and just as safe and would probably work just as well as the Lovenox. You will need prescriptions from your doctor for either the Lovenox or the heparin. Remember, both of these drugs need to be given by subcutaneous injection which you (or a family member) will have to learn to administer. Again, best wishes and thank you for the good questions. Dr T

   

• At Wed Sep 19, 06:20:00 PM 2007,  Anonymous said…

  Hi. My name is Tye. I have had one successful pregnancy (healthy 3 year old) and 2 miscarriages. The first at 8 weeks which was thought to have past at 6.5 weeks. The second was at 9.5 one week after seeing strong heartbeat of 170. A coagulation workup was done. I test positive for MTHFR mutation and anticardiolin (but neg indivual antibodies). I was started on a baby aspirin empirically. I increased my folic acid to 2g daily. My question is: Will I need to start on lovenox injections? And if so, when do I start them? Any advice would be appreciated.

   

• At Fri Sep 21, 06:31:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tye Sept 19: I am not sure from what you have told me if you need to be on Lovenox (or heparin) or not. But, if you and your doctors decide to use it, I ususally recommend starting it as sson as a pregnancy is confirmed by a blood hCG. In very 'high risk' patients, I will actually start the Lovenox midway through the luteal phase of the cycle (even before a pregnancy is confirmed). You probably do not need to take that approach at this point. Thanks for reading and for a very good question! Best wishes too. Dr T

   

• At Thu Sep 27, 11:44:00 AM 2007,  Ann said…

  Hi, I just tried to post, so I'm sorry if this is a duplicate.
  
  I just found out I am pregnant, 4 weeks along. I have a son with spina bifida, and have had 2 miscarriages at 6 weeks. I am on 4-5mg of folic acid daily.
  
  I am trying to get tested asap for MTHFR, as well as for b12 and homocystein levels.
  
  My questions are: Is there something else you'd recommend at this stage? And is there a better form of folic acid to take? (I am taking OTC.)
  
  Thanks for any help!

   

• At Fri Sep 28, 11:27:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ann Sept 27: Just keep taking what you are currently on. That would be the traetment for MTHFR polymorphisms anyway, so don't fret about getting the results back on that! However, with your previous history of a child with spina bifida, I do hope you were taking the folic acid BEFORE you got pregnant! Best wishes to you this pregnancy and thank you for reading. Dr T

   

• At Fri Sep 28, 11:40:00 AM 2007,  Ann said…

  Thank you for response.
  
  Yes, I've been on it continuously.
  
  Should I consider adding a B12 and B6 suplement (besides what's in my prenatal)?

   

• At Fri Sep 28, 05:32:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ann: Can't say they would help, but they wouldn't hurt either. The B6 may help some with 'morning sickness'! Good luck! Dr T

   

• At Fri Sep 28, 08:49:00 PM 2007,  tjtiger said…

  Hi, I found out yesterday that I am heterozygous for the C677T and A1298C gene mutations. I had a baby girl last August and three days after I left the hospital my blood pressure spiked and I had massive swelling in my legs. My OB put me in the hospital and ordered an EKG and Sonogram of my heart. They ran a zillon different blood tests but could find nothing. The OB said I was just exhausted from having a new baby and was doing too much. Several months later at a check up with my family doctor I told him about the incident and he said it sounded like MTHFR. He said most doctors don't know about it and that it wouldn't just show up in the Cardiologist's tests. He ordered a full set of labs including the MTHFR test and it came back positive. I actually have a copy of all the labs but I don't quite understand all of this and have a few questions.
  
  1. Where can I find more information about MTHFR?
  
  2. I have several brothers, sisters and half brothers and sisters. Should they all get tested. Can this affect their children?
  
  3. I have a 14 month old daughter, should I have her tested? Can this condition cause any health problems for a baby so young?
  
  4. Is there a possibility that I could also have Factor V Lieden? I don't know if that is a seperate test or not.
  
  5. Is there any link between MTHFR and Paranoid Schizophrenia? My father has Schizophrenia and I am wondering if maybe the underlying cause is this genetic condition.
  
  6. My family doctor said I should consider not having any more children until this condition has been studied more. Is this condition so severe I should consider not having anymore children? I had a very hard pregnancy and was put on bed rest several times. I am diabetic and had to take insulin injections while pregnant.

   

• At Tue Oct 02, 10:38:00 AM 2007,  Anonymous said…

  Hello. My husband and I lost our son this past February at 28 weeks in utero. The autopsy revealed that his ductus arteriousis was narrowing before birth and he had 3 small holes in his heart. All of the tests on me and the placenta came back normal. There were no chromosomal issues. Do you you why this happens? Can you see the ductus arteriousis closing in an echocardiogram? Should I ask to be tested for the MTHFR Mutation? Do you think there is a correlation?
  Any insight would be great. We have currently been trying to get pregnant for the last 6 months.

   

• At Tue Oct 02, 07:16:00 PM 2007,  Anonymous said…

  I am so happy I found this forum with a specialist who can give me an honest opinion!
  I am 33 yrs. old. 5 yrs. ago, I had an early miscarriage at 8 wks., our healthy son was then born prematurely at 34 wks. & he is now 4 1/2. Recently, I had a late miscarriage at 17 wks., with no definite cause of death after autopsy. I tested positive for compound heterozygous MTHFR, with a homocysteine level of 4. Our maternal fetal medicine specialist did not recommend any additional therapy other than high dose folic acid, B6 & B12. However, when I saw a hematologist, she suggested daily injections of low molecular weight heparin & calcium supplements, but did not mention aspirin. I'm SO confused as to what to do. I'm concerned about any risks of heparin. We are trying to conceive, and I have to admit I'm scared. I'm looking forward to your reply. Thanks SO much-

   

• At Wed Oct 03, 10:14:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To tjtiger: Great questions! See my post of October 3, 2007, devoted to your comment! Best regards, Dr T

   

• At Thu Oct 04, 06:07:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Oct 2: Quite frankly, the MFM is probably right. In theory, you probably don't need more than the folic acid and B vitamins because your medical history does not put you in a very 'high risk' category at this point. From the pregnancy standpoint, the best thing you have going for you is that you have previously carried a baby successfully, albeit to only 34 weeks. You were a compound MTHFR heterozygote then and you will be until the day you die.
  
  However, I do wish I knew more about the circumstances surrounding the midtrimester loss. Did the baby simply die in utero or did you go into early labor? Did you have any bleeding with that pregnancy before the loss? Any evidence of infection? What did they find on pathology of the placenta and the baby if that was done? What kind of comnplications did you have with the pregnancy you carried? How was your first baby delivered? Do you have any medical problems now? All those questions and probably more might give insight into why you lost that baby.
  
  Anyway, not to second guess your doctors at this point, but I probably would suggest throwing the baby aspirin into the mix. It's a heckuva lot less expensive than Lovenox. And, since it is NOT clear from your history that you need that aggressive managemnt, if you decide to go forward with something more, consider simply unfractionated heparin - again, it's a LOT cheaper than Lovenox. Not that Lovenox doesn't have its place as well! Good luck to you and please take a deep breath and count to 10! Thanks for reading. Dr T

   

• At Fri Oct 05, 07:35:00 PM 2007,  Jennie said…

  Hello-
  I'm Jennie, from Anonymous Oct. 2. Thanks so much for answering my post. To give you a little bit of background from the questions you asked...my first miscarriage at 8 wks. was after we went in for an 8 week scan, and detected no hearbeat. I had a D & E. The doctors chalked it up to a common occurrence in pregnancy. With my late miscarriage this past December, we went in for our monthly check-up at 17 wks., and there was no heartbeat. I did not have any complications, bleeding, infection, etc. up to that point. In fact, I thought we were out of the woods & on our way to a healthy baby. The chromosome tests all came back normal on the baby. The autopsy report identified umbilical cord stricture as the cause of death, but the MFM specialist said that was a stab in the dark, and they didn't really know. However, I did notice that the autopsy report does mention blood clot in the placenta a few times. However, MFM did not think that the findings were significant.
  I did have some bleeding early on when I was pregnant with our son (I passed a clot similar to the size of a finger), but after a scan it was determined that he was fine. My blood pressure was also up at one point, but then returned to normal. He was delivered vaginally 1 1/2 days after my water broke at 34 wks.
  Does any of this give you more insight on our situation? Is a baby aspirin safe for the baby? Could aspirin alone prevent clots? What are the risks of heparin?
  I can't tell you how much I appreciate your expertise & your thoughts. Thank you-
  Jennie

   

• At Mon Oct 15, 12:44:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Oct 8 10:38:00 AM: Sorry for the delay in getting back to you but I have been overwhelemed by qustions lately and, unfortunately, have a full-time job during the day (and many nights). I also held off answering because I was (and still am) thinking of addressing this question in a full post, but first I need a little more information from you. You said their were "no chromosomal issues", but I was wondering if you could be more specific. Your doctors probably looked to see if the baby had a trisomy, such as Down syndrome, but did they look, specifically, to see if the baby carried a deletion of chromosome 22q11? Microdeletions of this portion of chromosome 22 are clearly associated with congenital heart defects, especially conotruncal defects, such as Tetralogy of Fallot, that have narrowing of the pulmonary artery and ductus arteriosus and ventriculoseptal defects. Also, are there is there any other family history of congenital heart abnormalities? Regardless, if you'd like, you could have MTHFR testing and/or a fasting homocysteine level done, or simply supplement your diet with an additional 2-4mg of folic acid daily in anticipation of another pregnancy since that would be the recommended "treatment" under those circumstances anyway! Thanks for writing and for a very good question. Dr T

   

• At Mon Oct 15, 01:03:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jennie Oct 5: Sorry it has taken me so long to get back with you. The extra history is helpful, but it raises my concern a little, especially if you had some bleeding and blood pressure elevation with the pregnancy you carried and then the midtrimester loss on top of that. You could be having abnormal placental development that has led to all your different pregnancy complications and that may (or may not) be related to your MTHFR compound heterozygous status. Anyway, low-dose aspirin (81 mg per day) is very effective at blocking the activity of platelets that mediate clotting on one side of the 'coagulation system'. It seems to be very safe in pregnancy and I have used it for many indications over the past 25-odd years. In view of what you have told me, I would suggest taking that in addition to the vitamins. The usual doses of heparin we use under these circumstances are 'prophylactic' doses (not 'therapeutic'). Heparin does not cross the placenta and at prophylactic doses should not increase your risk significantly for bleeding problems. It is given by injection subcutaneously and usually twice daily (but the needles are small!). Some folks who take heparin will bruise at the injection sites or develop a drop in their platelet counts that usually resolves once the heparin is stopped. Again, I am not your doctor and cannot replace them in sorting out what's best for your care. However, to compromise, I have frequently treated someone like you (where it is not clear if heparin will be a benefit) with heparin up to about 20 weeks and then just stopped it, as long as everything else is going well with the pregnancy. This gets you past the critical period in placental development that probably benefits the most from anticoagulation. Good luck to you Jennie and thank you again for your questions. Dr T

   

• At Mon Oct 15, 04:39:00 PM 2007,  Jennie said…

  Hello Dr. Trofatter,
  Thanks so much for extensively answering my questions - I've looked forward to your responses. I'm wondering if you have the name of an OB in the Central PA/Maryland area that would specialize in MTHFR & recurrent miscarriages? I feel like I need to be proactive and seek the best possible care. I recently (today!) found out that I am 4 wks. pregnant. If you have any suggestions for doctors, I welcome them. Thanks again-
  Jennie

   

• At Wed Oct 17, 04:52:00 PM 2007,  sasha said…

  Dear Dr.,
  My name is Camilla. I'm 30 yrs old, with two previous miscarriages at 11 and 12 weeks, both of which required D&Cs. My workup after the two miscarriages showed nothing abnormal that I'm homozygous for the MTHFR mutation, although my homocysteine levels were not elevated. Even though our genetics counselor said we did NOT need to be Lovenox, our obgyn and the maternal fetal specialist both recommended starting injections immediately after conception. We did that, and I'm now 13 weeks pregnant with a healthy ultrasound at 12 weeks. (I never took aspirin or any additional folic acid besides a basic prenatal. Doctor never mentioned it.) My question is: are there any statistics available on the chances that I'll carry this baby to term? Does the MTHFR mutation make the pregnancy high risk through the second & third trimesters, or am I in a safer position now at 13 weeks? Thanks so much for your help, I really appreciate it.

   

• At Fri Oct 19, 07:42:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jennie Oct 15: How close are you to Pittsburgh? They have a very good REI and MFM program there. There is also a good program at the University of Pennsylvania. If nothing else, one of those places may know of a good provider in your area so it may be worth a few phone calls or website visits! Good luck to you Jennie. I hope things turn out well for you this time! Dr T

   

• At Fri Oct 19, 07:48:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Camilla Oct 17: You have probably gotten past a critical stage of your pregnancy. I will often stop Lovenox between 20-26 weeks if everything is going well at that time (i.e., if fetal growth and Doppler studies are reassuring) and you should be at fairly low risk for complications from that point on based on what you have told me so far. Congratulations and best of luck for the rest of your pregnancy! Dr T

   

• At Mon Oct 22, 09:35:00 PM 2007,  Anonymous said…

  My name is Shelia and I have a question for you. We just lost a baby at 25 weeks and 6 days, though she was only measuring at approx 19 weeks. She had no fluid and only weighed 6.8 ounces. All of our ultrasounds were normal until 22 weeks, which is when it was noticed that she had stopped growing. I have had lots of testing done, and the only thing that came back positive was a single mutation of MTHFR C677T. Could the MTHFR C677T Mutation be the cause of this? If so, what would the treatment be for this, and do we have a decent chance of having a successful pregnancy?
  The high-risk specialist in my area doesn't exactly inspire confidence, so I would prefer a second opinion. He has not mentioned anything in regards to a treament, folic acid, aspirin, b6, b12, etc or even that this is a problem. I would appreciate your input.

   

• At Fri Oct 26, 04:24:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Shelia Oct 22: It is highly unlikely that a single MTHFR C677T mutation caused that pregnancy loss. Chromosomal, genetic, and infection with CMV are much mre likely causes, unless you have another autoimmune or thrombophilia abnormality for which you have not yet been screened. Do you know what tests you had done and were any studies done on the baby or the placenta? Regardless, there is no harm taking extra vitamins, folic acid and, perhaps, even a baby aspirin prior to another pregnancy, but please discuss that with your doctor first. Thanks for reading and for your questions! Dr T

   

• At Thu Nov 01, 04:33:00 PM 2007,  Jennie said…

  Hi Dr. Trofatter-
  What do you think of the flu vaccine in the 1st trimester? I'll only be 7 weeks when I'm scheduled to get it. I cannot find anyone offering the thimerasol-free alternative.

   

• At Mon Nov 05, 11:44:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Jennie: I would recommend you get the vaccine. The risk of small complications from that are well worth minimizing the risks of the BIG complications you can run into during pregnancy with the flu. High fevers and superimposed maternal bacterial pneumonias pose a much greater risk to the baby. Also, I think the evidence is pretty good that you don't have to worry about the thimerasol either. Good luck with things and thanks for a great question. Dr T

   

• At Thu Nov 08, 09:49:00 PM 2007,  Anonymous said…

  Hello, 7 years ago, I had a son whom was diagnosed with complex congenital heart disease. I was told by a doctor in the NICU that it would be best to disconnect him from life support. We almost did. He has had 3 open heart surgeries, and several cardiac catheter procedures, and takes medications daily. He was also born without a spleen, and malrotation of the intestines. My queston is was it my fault? Although the doctors tell me no. Before I found out I was pregnant, I was taking diet pills. I was wondering if that could have been the cause. Ofcourse as soon as I found out I was pregnant I no longer took them. But I think sometimes, maybe it was my fault, my son has had to suffer so much. Please be honest. Do you think it was the diet pills? Do you know of any other mothers in my situation? You can call me DD. Thank You for your time.

   

• At Tue Nov 13, 06:13:00 AM 2007,  Anonymous said…

  hi, my name is carole. i have delivered three daughters -- in chronological order, one at 17 weeks, one at 39 weeks (now 14 mos) and one at 22 weeks. the first and third were PPROM. i'm trying to figure out whether my tendency toward PPROM is related to other things.
  
  after 3 early miscarriages i was diagnosed with luteal phase defect (which i don't understand b/c my luteal phase is not short -- it's 14 days, but i ovulate on day 17 of my cycle). i also saw a rheumatologist who found a relatively low titer of anticardiolipin. so for my next pregnancy i was on 200 mg prometrium for the first trimester and a baby aspirin daily. this was the pregnancy with PPROM at 17 weeks. after that loss my OB decided to go with heparin and 1 mg folic acid daily (along with a b complex), as well as the prometrium in the first trimester. i carried the next pregnancy to term with no complications at all.
  
  then i moved out of state, and my new OB thought the 1 mg folic was unnecessary. i still took vitamins, prometrium (through week 14) and daily heparin. but i didn't worry about folic acid and the b vitamins. i had PPROM at 20 weeks, went on bedrest and got an infection, went into labor at 22 weeks.
  
  it feels like folic acid and b vitamins are the magic bullet, but i know better than to assume that (even though i want to). my last delivery was 6 weeks ago, and we want to try again soon. i'm currently dosing up on folic acid, b's, and c & e (after reading that ruptured membranes can be linked to weak collagen structures and/or oxidative stress). i'm seeking all the medical advice i can: what you recommend i do? thank you for your advice.

   

• At Fri Nov 23, 10:52:00 AM 2007,  Anonymous said…

  Hello - I have PCOS and I am compound heterozygous MTHFR. I have had 2 miscarriages; 5 wks and 9 wks both pregnancies from clomid. Now I am 9.5 weeks pregnant, conceived on our own, and I have been taking folgard and baby aspirin for the past 5 months. Once I discovered I was pregnant I was put on Lovenox once a day. After 2 ultrasounds everything looks great and my RE wants to take me off the Lovenox at 12 weeks. Is this normal? I have not had my homocysteine levels checked but I've read being hetero am I'm less of a risk for high homocysteine levels, right? Plus the folgard should be normalzing me. Do I need the Lovenox?
  
  Thanks Kristal

   

• At Thu Nov 29, 04:51:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kristal Nov 23: You would be a good candidate to discontinue the Lovenox once you get through first trimester. I would do th same myself unless you have some other risk factors that you haven't told me about. Dr T

   

• At Sun Dec 09, 02:53:00 PM 2007,  Anonymous said…

  Dr. Trofatter, I am trying to find out some information for my friend, her name is Amy. Amy recently lost her baby two weeks before it was due. After she felt the placenta pull away, she went to the hospital and they said the baby was dead. Afterwards, she tested positive for two mutations C677T and A1298C. Also, on the PAI-1 Test she scored 22 (with an acceptable range of 0-14.) Her doctor seems to not be able to give her a straight answer on what caused the loss of the baby.
  This was Amy's second child. Her first child was delivered at home and there was no blood in the umbilical cord. They said it was a miracle that she even lived.
  She had a good pregnancy all the way through. (1) Do you think that preeclampsia was the cause?
  Also, the doctor knew that her first baby was born without any blood in the cord. (2) Shouldn't the doctor have performed a tests to determine if these complications existed???
  (3) Finally, Amy's doctor tells her that she should not try to have any more children. Do you have the same opinion?
  
  Any information you can give is greatly appreciated.
  
  Kindest Regards,
  
  Josh

   

• At Sun Dec 09, 03:03:00 PM 2007,  Anonymous said…

  Dr. Trofatter,
  
  I wanted to add to my former post. They diagnosed amy with hyperhomocysteinemia as well.
  
  Thanks
  Josh

   

• At Mon Dec 10, 08:36:00 AM 2007,  Sally said…

  My husband, age 57, had a bicuspic aortic valve replaced 7 years ago. Our 30 yo daughter had fertility problems and was diagnosed with the MTHFR mutation, and has been put on Folgard and baby aspirin. Our 27yo daughter has been having seizures for the last 3 yrs. without any known cause. Do you think there could be a connection?

   

• At Tue Dec 11, 06:09:00 AM 2007,  Anonymous said…

  Thank you Dr. T. I am now 12 weeks and going off Lovenox. No other risk factors. Thanks again!

   

• At Wed Dec 12, 10:05:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Dec 11: Great and good luck to you! Let us know how things turn out. Dr T

   

• At Wed Dec 12, 10:34:00 AM 2007,  Stacy said…

  I have recently been diagnosed with heterozygous MTHFR. I have had 3 total miscarriages, two of them consecutive in the last 3 months and early on the pregnancy. I had a healthy full term pregnancy between my first and second miscarriages. My course of treatment (daily ASA, 4mg of folic acid) seems in line with what I've read on the subject. My only question is how long should I be on this regimen before we try to conceive again?

   

• At Wed Dec 12, 06:21:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sally Dec 10: Hi Sally. Could all be related, possibly, but I am not sure, in fact I would doubt, that the MTHFR polymorphism is the common problem. You did not say whether your daughter was heterozygous, homozygous, or otherwise with regard to her MTHFR mutation(s). Have the other family members been evaluated for this as well? Are there other problems that run in the family, for example, autoimmune disorders? Anyway, sorry I can't be more help to you at this time. Good luck to all of you!
  Dr T

   

• At Fri Dec 14, 01:36:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Josh Dec 9: There is nothing you have told me that would make me think Amy should never get pregnant again. However, it would be good to get more specific information about what tests were done. Her MTHFR and elevated homocysteine levels are related and may have resulted in abnormalities of the placentas in both of her pregnancies. Before conceiving again, she should begin high-dose folic acid (4-5 mg per day), supplemental B-vitamins, a baby aspirin and have her homocysteine level rechecked before getting pregnant to see if that has been corrected. In any subsequent pregnancy, she should have very close monitoring by a physician (no home care or delivery) with regular assessment of fetal growth and Dopplers. She should also have maternal serum screening done at 16 weeks and a targeted ultrasound to look for fetal anomalies at 18-20 weeks. Both heart and neural tube defects are associated with MTHFR polymorphisms and elevated homocysteine levels. She might also be a candidate for prophylactic therapy with heparin or low-molecular weight heparin, but I would withhold my judgment on that for the time being. Feel free to pass my comments along to her and tell her I am sorry for her loss too. Dr T

   

• At Fri Dec 14, 03:59:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Stacy Dec 12: Did your doctor happen to check a homocysteine level? Regardless, you are probably already covered. I suggest a month before conceiving, but in reality, I have no data to tell you that is any better than a week! Good luck to you and let us know how things turn out! Dr T

   

• At Wed Dec 26, 11:55:00 AM 2007,  Anonymous said…

  Hi, my name is Amy and I am currently 11 weeks pregnant with twins and just found out today that I am positive for 2 mutations of MTHFR. I have been on baby aspirin for 2 weeks since my first OB appt. I lost my first pregnancy to stillbirth at 30 weeks, and this is why my OB tested me for it. I am going to be starting on Lovenox today. Please tell me what could happen to the babies (or could have already happened) since I've not received treatment up until this time. Thank you.

   

• At Wed Jan 02, 11:50:00 AM 2008,  Sally said…

  Sally again, thanks for helping. 30yo daughter is heterozygous for the A1298 mutation of MTHFR and besides the undiagnosable seizures of the 27 yo and my husband's aortic heart valve replacement, we have no other diagnosed problems. My husband has suffered for 7 yrs though with an undiagnosable pain problem which is severe and in the area of his abdomin. We are being tested for the MTHFR problem tomorrow and I assume it would be good to suggest our 27 yo (with seizures) be tested as well, you think?

   

• At Thu Jan 10, 06:49:00 AM 2008,  goldwinginmama said…

  Hi I'm Theresa, I'm 25 years old and recently found out I'm almost 8 weeks pregnant. I had been taking prenatal vitamins prior to finding out I'm pregnant for vanity reasons (trying to get my hair and nails to grow). I had 3 strokes, 2 massive and a mini, when I was 21. No one told me I had the 2 mutated genes known as MTHFR. Actually it was my OBGYN that found it in my records in December when she was going to start me on birth control to try and control the cyst problem I have. I have been on bc before and have no idea if that's what contributed to the strokes or not. Needless to say after doing research on the web I'm a little scared about this pregnancy. See, I was scheduled for a hysterectomy later on this month and from what the dr. had said it was highly unlikely that I would be able to get pregnant let alone carry. And if I miscarry there are chances that I could throw out more clots and it could possibly be fatal. The odd thing is that I found out the end of December that I was pregnant by taking a home pregnancy test and the office has yet to do a blood test on me. I'm taking the baby asprin, 3 mg of folic acid a day, and a b complex vitamin from shakley in addition to my prenatal vitamin. I have another dr. appointment today because of cramping but since they have found a heart beat (109 beats per minute) they are going to refer me to a high risk specialist at Magee Womens Center in Pittsburgh, Pa. I'm wondering what all I could be up against as well as what questions I should be asking my dr. Any advice would be greatly appreciated. Thanks!

   

• At Sun Jan 13, 09:19:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Amy Dec 26: Hi Amy, sorry for the delay in responding to your question, but somehow I did not get it til this week. The actual 'treatment' for women with MTHFR polymorphisms is high dose folic acid as detailed in my posts. Early in pregnancy, the greatest risks are miscarriage (which it appears you have avoided) and certain birth defects, particularly neural tube and heart abnormalities. You are beyond the time in the pregnancy when you can do anything about those if they occurred (hopefully they haven't). I do recommend that you have maternal serum screening done at 16 weeks and also a high level ultrasound at 18-20 weeks. Twins are at increased risk for birth defects for other reasons and the maternal serum screening is not as reliable under those conditions. I am not sure why you lost your last baby, but if the baby was small, or if you had preeclampsia, then the lovenox and aspirin may reduce your risk for that somewhat, although, again, it is better to start those much earlier in pregnancy if it there is concern that the MTHFR caused your last pregnancy complications. MTHFR and other genetic polymorphisms are accompanied by abnormalities of placentation that can eventually lead to restricted fetal growth. Because you have twins, it is usual to follow these by ultrasound to make sure they are growing adequately (at the same time ask your doctor if they are going to measure your cervical length since you are also at greater risk for premature delivery). Doppler flow studies to determione if the babies are having any trouble pushing blood through the placenta can also be done, and if these are reassuring, your likelihood for later pregnancy complications is reduced. Anyway. Good luck to you, best wishes for the pregnancy, and thanks for reading. Let us know how things turn out! Dr T

   

• At Sun Jan 13, 09:22:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sally Jan 2: Sorry for the delay in getting back to you. There have been some problems getting comments and questions to my mailbox. Has your husband or anyone else in the family been evaluated for acute intermittent porphyria or inflammatory bowel disease? Dr T

   

• At Sun Jan 13, 09:33:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To goldwinginmama jan 10: Sometimes pregnancies happen for reasons we don't understand and I have had many women over the years in your situation who found it to be the most blessed thing that they didn't ever expect. Of course, in your case, there are risks. I am sure the doctors at Magee will look for evidence of other genetic or inherited 'thrombophilias' (tendency to have blood clots and embolic events such as you have had). They will probably also do an echocardioggram on you to see if your heart is normal, especially if you had 'strokes' when you were younger. I bet right now, you have more than just the MTHFR polymorphisms! And, I certainly hope you are NOT SMOKING. The doctors will also probably recommend that you be placed on anticoagulation therapy (heparin or low-molecular weight heparin) throughout the pregnancy and postpartum period - probably at therapeutic doses. I recommend that you have maternal serum screening done at 16 weeks (your doctors will explain that) and a high level ultrasound at 18-20 weeks. The growth of the baby and Doppler flow studies to look for any trouble your baby might have in pushing blood through the placenta are also typically done under these circumstances. If you have a significant 'thrombophilia', you are at greater risk for a growth-restricted baby, hypertensive complications of pregnancy, early delivery and cesarean section. But, I am sure the Magee doctors will discuss all of that with you. The odds are still in your favor that you and the baby will get through the pregnancy okay. Best of luck to you, thanks for reading, and if you are ever in the Greenville SC area with your Goldwing, let's take a nice ride through the mountains together! Let us know how things turn out. Dr T

   

• At Thu Jan 31, 09:25:00 AM 2008,  Anonymous said…

  Hello doctor! I am so thriled to find you. My name is Karen.I am 9w 3d into my eighth pregnancy. I have had 3 healthy normal prenancies with no complications. I have had 4 losses: 9 weeks (missed until 12) Turner's Syndrome
  6 weeks (missed until 9) Blighted ovum
  4 1/2 weeks late cycle, + test, then period
  11w4d (missed until 15) My son tested a normal male.
  The last three miscarriages were in a row. The first was between pregnancy 2&4 (third pregnancy).
  
  I was sent for recurrent loss testing and found one mutation of C677T, normal homosyteine level and a PAI-1 level of less than 2. The RE who helped us get this baby put me on 4 mg of folic acid (1mg is with my prenatal)but no baby aspirin. To complicate matters I have a subchronic hematoma that has increasingly gotten smaller. When I was release from the RE, my regular ob did not feel the extra folic acid was necessary, but agreed that I could stay on it since I felt better taking it. I also take a B complex vitamin. I have heard that I need to have a certain amount of both B6 and B12 to make the folic acid absorb.
  What is your opinion and how do I find a hematologist (I live in northern NJ) that is well informed on MTHFR? I want to make sure I am doing everything I can for both me and my baby. Thanks so much!

   

• At Sat Feb 02, 05:17:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Jan 31: Unless there is something you have not told me (or not been tested for), chances are that things will go well this pregnancy. Usually it is not necesssary to find a hematologist for a single C677T mutation because you are very low risk for clotting complications. Sounds like you are treating the 'problem' well at this point and should not need any other medications. So, RELAX, Girl and let us know how things turn out this time. Dr T

   

• At Mon Feb 04, 06:56:00 AM 2008,  Talya said…

  Hi, my name is Talya. I have a 16 year old son with Homocystinuria. I have a 12 year old daughter who was born with a unique congenital heart defect - Isolated ventricular Inversion. She also has Heterotaxia. I was religious about taking my prenatal vitamins before and during my pregnancies, which included folic acid. Early on in my pregnancy with my daughter the doctor recommended that I take high doses of vitamin B6. I do not have an elevated level of homocysteine although I am a carrier of Homocystinuria. I would like to know whether my daughters heart defect may be related to folic acid/homocysteine.

   

• At Tue Feb 05, 08:12:00 PM 2008,  Anonymous said…

  Hello Dr T, very happy to have found you. I had a PE in 2000 from taking birth control pills. Nothing was found to have caused this other than the estrogen in pills (Estrostep). I had 1 miscarriage in 2004 at 6 weeks (blighted ovum). I was tested by perinatologist and he indicated to me I did not need to be on blood thinners during a future pregnancy, based on the fact that all bloodwork came back negative (Anti-ThrombinIII, Protein C & S), and on statistics with women taking blood thinners during pregnancy with my past. I had a successful pregnancy which began 2 months later. Post-partum I was given heparin for 6 weeks, and all went well. After post-partum, I had more bloodwork done by a hematologist which found I tested positive for heterozygous MTHFR and elevated homocysteine levels. I have moved out of state, and now am 7 weeks pregnant. When I went to new ob, they indicated I would have to be on Lovenox during entire pregnancy, and did not mention any additional vitamins. I'm questioning taking the blood thinners. Do I need to? Was the MTHFR never around before, why would the MFM doc not test for any of this in 2004, I don't see any info out there. What happens if I decide not to take the Lovenox? Thank you.

   

• At Wed Feb 06, 05:31:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Feb 5: You were born with the MTHFR polymorphism(s, they did not just spring up in your 'old age'. I guess I am more concerned by the fact that the homocysteine levels were elevated and for some reason you developed a blood clot while taking the oral contraceptives. Pregnancy places an awfully high 'thrombophilic load' on your body. At the least, I would suggest taking supplemental folic acid (2-4mg per day) and a baby aspirin. The folic acid often corrects abnormalities associated with MTHFR polymorphisms and the elevated homocysteine levels. You probably don't need 'therapeutic' doses of lovenox or heparin, but you might consider 'prohylactic' doses. There is no absolute 'standard of care' under the circumstances for either evaluation or treatment of genetic or acquired thrombophilias, so don't be too hard on your previous doctors! Dr T

   

• At Wed Feb 06, 07:15:00 PM 2008,  Anonymous said…

  Dr T, I don't know if this will help, but wanted to add that I was negative for prothrombin mutation, and at the time of the PE, I was overweight and working very long and stressful hours sitting down. I also have vericose veins in legs. Now that I'm pregnant I am exercising twice a week, but I am still overweight.

   

• At Thu Feb 07, 05:59:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Feb 6: You probably should add the heparin or lovenox to the other treatement recommendations. Better safe than sorry! Dr T

   

• At Fri Feb 08, 10:24:00 AM 2008,  Anonymous said…

  I delivered a still born baby during my first pregnancy. Pregnancy seemed to be normal apart from the fact that I developed severe itching all over my body from 5.5 months of pregnancy. Later during 7th month I had severe cough. Doctor had given medicines to control my cold & medicine for controlling itching. When my 9th month started, the movement suddenly increased and the next day when we went to the doctor she told that the baby(male) had passed away. They did chromosome test for the baby and said it was normal. Within 4 months after delivery I got pregnant with another baby. I started taking folic acid right from 3 months before I conceived the second time. I had full term delivery but after birth only doctors came to know that he was born without the right side of the heart. He is no more now. The basic chromosome tests of my Hubby & myself were taken & it came out to be normal. we couldn't take the chromosome test for the 2nd baby. I didn't have any complications during 2nd pregnancy yet it happened. Kindly advise as i'm really confused as what to do and what more tests we should go for

   

• At Tue Feb 12, 08:11:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Talya Feb 4: Check out my post of February 12, 2008 as a response to your questions! Thanks for writing. Dr T

   

• At Thu Feb 14, 05:32:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Feb 8: I am so sorry you have had such a hard time. It is never easy to lose ANY pregnancy, but to carry to term and then lose two babies is especially difficult. Have you had any testing done to date other than the chromosome studies on you, your husband, and the first baby? Do we know if the first baby had any heart abnormalities? The reason I am asking is that there is a very subtle chromosomal abnormality that is a microdeletion of chromosome 22q11 that is accompanied by an increased risk for recurrent cardiac malformations in babies of couples who otherwise appear quite normal (most of the time). One of you could be a carrier of this mutation. I suggest that before you get pregnant again, and before you have a lot of other testing done, ask to speak with a good genetic counselor. Thank you for writing. I can tell it must have been hard for you. Best regards and best wishes. Dr T

   

• At Tue Feb 19, 02:52:00 AM 2008,  Anonymous said…

  Hi Dr. Trofatter, thank you in advance for fielding these questions. After the birth of my daughter in 2003, I had two subsequent miscarriages, in 2004 and 2005. After consulting with an RE who recommended IVF with PGD, he also discovered that I have the MTHFR mutation (I am in the process of getting my paperwork to get more details--I did not really pay much attention to the particulars I admit)
  
  After two unsuccessful IVF treatments, I became pregnant naturally (while on a course of Folgard and baby aspirin) and gave birth to a baby one year ago.
  I just discovered in December that I was pregnant again--not expecting it and not trying to be, so I was not taking the Folgard/aspirin prenatally. We just got an amnio confirmation of Trisomy 21 --I have two questions please. 1) I am wondering if you think there might be any correlation at all between the MTHFR and me not being on the medications and 2) what information specifically I should be looking for when I ask my doctor for information about my MTHFR mutation.
  Thanks again.

   

• At Sat Feb 23, 05:39:00 PM 2008,  Anonymous said…

  Hi, my name is Jill and I'm 32 years ols and I've had 3 miscarriages in the the past year and a half. I was recently diagnosed with the MTHFR Mutation and am positive Homozygous for 2 copies of the A1298C mutation. My hematoligist put me on a high dose of folic acid, B6, and B12 vitamin; also my doctor told me that he was 90% sure that I have LPD. He request that I either go on Pogestrone Suppositories or take Fertility shots before I get pregnant again.I was on pogestrone suppositories the last time I was pregnant but I started them when I was a couple weeks pregnant and lost it at 8 weeks.I'm scared to try again and worried that it will happen again or have birth defects. I just need some advice on everything. I don't know what method to try first because i'm afraid of another miscarriage. I need some advice and do I have other options to try. Help???

   

• At Sat Feb 23, 06:02:00 PM 2008,  Anonymous said…

  Hi, my name is Jill and I'm 33 yrs. old and I've had 3 miscarriages in the past 1 year and a half. I was recently diagnosed with the MTHFR Mutation and positive Homozygous for 2 copies of the A1298C Mutation. My hematoligist put me on a high dose of Folic Acid, B6, B12 multi-vitamin; also my doctor says he is 90% sure that I have a luteal phase defect. He says I should either go on pogestrone or Fertility shots before I get pregnant again; I'm not sure which one to try because I was on pogestrone the last prgnancy. I was taking when I was 2 weeks pregnant and I lost it at 8 weeks. I don't know if it would help if I would take it before I got pregnant or if the fertility shots would be the way to go. I'm scared but want to have a family; I just want some advice on knowing what to do or if there are other options for me. I also want to know if there would be any birth defects once I had a baby. Do you think you could help me?

   

• At Thu Feb 28, 12:50:00 PM 2008,  ZonneBloem said…

  Hi,my name is Morgen. I have had a history of miscarraiges and after 2 healthy pregnancys I thought that my worries were over, until this past December. I miscarried just about the same time that I found out that I was pregnant. My dr. had me do all sorts of labwork and it turns out that I am homozygous MTHFR- she said both parents had the same mutation. I went back to have my homosistine levels checked today. I am curious, my dr. made it sound like what I have is the less "scary" option. She recomended baby asprin and 2mg of folic acid. If the results of the blood work done today come back abnormal then she said they would break out the big guns of blood thinners. My reading on the internet has confused me to no end. My concerns are 1: is my dr. on the right track (she said she just recently started believing in the link of MTHFR and miscarraiges) and 2: What are the risks of birth defects- I have a sister with Downs and never really worried about it until now, now that I know that what I have can cause it. Are there studies that show by following the drs advice it decreases the birth defects? I mean I plan on following it, it can't hurt, but will it significanly improve the chances. Would I be at more of a risk of having a child with downs because of family history? Can you take too much folic acid? I am just a bit freaked out and am just looking for answers. Thank you, Morgen

   

• At Thu Feb 28, 04:29:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Feb 19: It's interesting you should ask that question about Down syndrome. I wrote a post last year sometime citing evidence that there may be a higher rate of survival among Down syndrome babies that carry MTHFR mutations! These mutations may blunt the effects of having an extra chromosome 21. But to the best of my knowledge, MTHFR do not cause the actual chromosomal abnormalities. I have often wondered if overcoming the effects of these mutations by taking extra folic acid actually increase your risk for sponatneously losing a baby with trisomy 21, but I don't know the answer to that. You did not mention if you have one or two MTHFR abnormalities. If you only have one, it is a very unlikely cause of your early pregnancy losses. Also, unless you have other risk factors, it does not necessarily increase your risk for blood clotting problems or late pregnancy losses either. At this point, I would just take the extra folic acid and even a baby aspirin to 'cover all bases.' Good luck to you and let me know how things turn out. Best regards! Dr T

   

• At Thu Feb 28, 04:36:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jill Feb 23 and 28: The folic acid and the B vitamins have a very good chance of overcoming any deleterious effects of the MTHFR mutations for both you and your baby. The progesterone may help you get through the first trimester (after which the placenta takes over and makes alll the progesterone you need to support the pregnancy) if you have a luteal phase defect, but you need to start taking midway through the luteal phase (around day #21) of the menstrual cycle if it is to have a chance of helping you. NONE of these medications at the usual doses recommenede are a known cause of birth defects. Does that guarantee a perfectly normal ? No, I am afraid not, but it does help to reduce your risk for both congenital heart and neural tube defects that are associated with the MTHFR/folic acid pathways. Good luck and thanks for writing. Dr T

   

• At Tue Mar 04, 06:05:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Morgen Feb 28: The best thing you have going for you is that you have successfully carried two pregnancies. The miscarriages may have had nothing to do with your MTHFR polymorphism homozygosity! But, to answer your concerns: 1) I believe from what you have told me, your doctor is "on the right track"; 2) The primary risks of "birth defects" are for neural tube and congenital heart defects and taking the folic acid should greatly reduce your risks for those problems. Yes, there are many studies that have shown the benefits of folic acid supplementaion and the reduction of birth defects. 3) MTHFR polymorphisms do NOT cause Down syndrome, but they might increase the risk of survival of those babies for reasons that are not clearly understood. Most babies with chromosomal abnormalities miscarry in first trimester, but MTHFR polymorphisms may decrease the risk of that happening for babies with trisomy 21. 4) The "family history" will, at most, minimally increase your risk for Down syndrome unless it is related to carriers of "Balanced Robertsonian Translocations" involving chromosme 21. That's too complicated to explain here, but I have several posts on that topic if you are interested in looking for them! 5) Usual doses of folic acid given to overcome the effects of MTHFR polymorphisms are in the range of 2 to 5 mg per day. What you are taking should be just fine. REMEMBER, you have had two normal pregnancies, so there is a very good chance you will have another, regardless of what we do as physicians. Let me know if anything else is found in your evaluation that might change my mind on that! Thanks for writing. Dr T

   

• At Mon Mar 10, 12:39:00 PM 2008,  erica said…

  Hi, my name is erica and I am currently 16 weeks pregnant. This pregancy happened b/c of IVF. I have unexplained infertility. I have had 2 previous miscarriages. One at 9 weeks (we saw the heartbeat 3x's), and a chemical pregnancy. These where also IVF attempts. I was then tested after my first miscarriage and I have Factor V, decreased protein S, protein C resistance, and homozygous MTHFR A1298C . I am currently on 30 ul (30 units) of innohep, 1 tab of Folgard, prenate elite vitamin, expecta. Do you feel this is enough folic acid
  (3.2mg) and would you change anything in my tx regimen. Thank you for your time.

   

• At Mon Mar 10, 07:41:00 PM 2008,  Anonymous said…

  Hi Dr. T:
  
  Six months ago I lost a monozygotic dichorionic twin pregnancy in which one twin had a neural tube defect and the other had hypoplastic left heart syndrome. Since then, I learned that I have a high titer of folate receptor autoantibodies. (Rothenberg, et al. NEJM, Jan 2004;350:134-142)
  
  I had a few questions for you:
  
  1. What, if any, experience do you have with folate receptor autoantibodies in pregnancy?
  
  2. What is the safety and/or utility of low dose steroids (prednisone 5mg) pre-conception and throughout pregnancy as treatment for such autoantibodies?
  
  
  Thank you!
  Dr. S

   

• At Tue Mar 11, 11:24:00 AM 2008,  Anonymous said…

  Hi. I recently had a pregnancy loss at 28 weeks. This was my second pregnancy. I have a healthy 2 year old daughter, after a healthy and uneventful pregnancy. After my loss I had all the tests and there are two things my doctor is pointing to as "maybe" causing the stillbirth. One is that there was a small clot (1 cm) on the placenta - but, the baby was developing completely normally as far as they can tell and was on the big side of the normal range for size. The other is that I am compound heterozygous for MTHFR. My homocysteine is normal, no other clotting disorders, no family or personal history of clotting (even when I was on the pill). My doctor recommend increased folate and a daily baby aspirin and thinks I should also go on heparin. His only question is whether I should go on heparin before getting pregnant. He recommended I see a hematologis to help answer that question - he thinks the hematologist will agree that heparin is the way to go, only question is timing. He thinks that with this treatment there should be no adverse impact on a subsequent pregnancy from the MTHFR. I am very confused by the materials available on the internet - some suggest MTHFR doesn't matter if homocysteine is normal. Others suggest that basically every kind of MTHFR mutation can cause problems and that the one I have is not quite the worst, but close. Do you agree with my doctor's recommendations and prognosis? Thanks.

   

• At Wed Mar 12, 06:15:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 11: With a negative family history and personal history (except, perhaps for the pregnancy loss) and a previously uncomplicated term delivery, I do not see a reason to start heparin before pregnancy, if at all. The supplmental folic acid and the baby aspirin will go a long way towrad reducing the risk for both you and the baby. I am curious about your loss though. Did you have any studies done on the baby or the placenta? Was the baby normal size for the gestational age? Did it have any apparent abnormalities? Was there any evidence of infection? Did you have gestational diabetes or hypertension? Any bleeding? What other tests has your doctor performed on you? Thanks for reading! Dr T

   

• At Thu Mar 13, 05:43:00 AM 2008,  Anonymous said…

  Hi, Dr. T this is "Anonymous March 11" - my name is Kathy. Thanks for writing - my loss was only 5 weeks ago, so I'm still quite shaken and am probably leaving out lots of relevant information. I want to echo the other posters who have thanked you for your kindness in responding to these posts. Regarding further inforamtion on my loss, here's what I know:
  
  1. There was a full placental pathology - my doctor says that everything the report disclosed could also have been seen in the placenta of a live delivery. Placenta was 75th percentile for gestational age. Report says "small foci of retroplacental hemorrhage involving approximatelyl 10% of the maternal floor" - doctor says that could have happened after the baby died and he doesn't really see it as significant. The only thing that stands out to him is the 1 cm clot - he said that it's not uncommon to have clots (even bigger and more numerous clots than in my placenta), but together with the MTHFR could point to something. The placenta report also says is "no evidence of acute funisitis"). The cord was also examined, it had the three vessels, was the right color, attached in the manner it was supposed to, nothing wrong with it, no clots, knots, nothing.
  
  2. We chose not to have the baby autopsied - the doctor examined her physically though. She was normal size for gestational age (at 28 weeks 3 days she was 2 1/2 pounds and 16 inches long). She looked completely normal - beautiful in fact. The only prenatal testing I had done was ultrasounds and a quad screen. Based on those tests the chances of chromosomal abnormality were something like 1 in 2,200 (much less than the chances based on my age alone - I just turned 37).
  
  3. No evidence of infection of any kind - had placenta aerobic and anaerobic cultures both negative for anything. CMV test was positive for the antibody but no recent indications of infection, so my doctor says I probably had it as a kid. Had my rubella immunizations updated before my first pregnancy, so am immune (as evidenced by labs in connection with my loss). No symptoms of any kind of infection at any time during my pregnancy.
  
  4. No gestational diabetes with either pregnancy (I had just had the test 10 days before), no high blood pressure (with either pregnancy, highest it ever got was I think 120 over 70 - usually was in the 115 over 65 range). No personal history of high blood pressure.
  
  5. No bleeding during either pregnancy - not a drop at any point. I don't know if this is relevant, but when I had my first ultrasound with my second pregnancy, they said there were some very small (I think they said a milimeter) pockets of blood between the placenta and the uterine lining (not sure I'm explaining that correctly). Of course when they told me that I started freaking out but they said probably no big deal it's just that the technology now allows them to see that whereas it didn't before, so worth watching to make sure it corrects itself, but probably nothing. I had a follow up ultrasound a couple of weeks later and it had corrected itself. At the next ultrasound they said I had a low lying placenta (not previa, just low lying) and we'd have to watch to see if the placenta would "grow up" my uterus. Well, it did - I had an ultrasound 10 days before my loss and the placenta had grown up, no longer low lying, and they said if anything it would continue to grow up - so, all was thought to be well. At that ultrasound they measured the baby, looked at her heart, etc. did the doppler thing on the cord and everything was perfect.
  
  6. I didn't go into pre-term labor or anything, just stopped feeling her move.
  
  7. Also had a fetal RBC assay, that was normal. Test for syphillis that was negative.
  
  8. To my knowledge, I've never had a miscarriage. This confuses me because most of the stuff I've seen on MTHFR talks about an association with early losses, not so much late losses.
  
  I have mixed feelings about going on heparin - I'm not too excited about the prospect of injecting myself. On the other hand, if there is even the smallest chance that it would avoid me having a miscarriage or another stillbirth, I will do it without hesitation, so long as it is safe.
  
  Thanks again, I look forward to your response.

   

• At Thu Mar 13, 08:22:00 AM 2008,  Anonymous said…

  This is Kathy again from "anonymous March 11" again. I forgot to mention all the cloting disorder related testing I had (anti-thrombin III, Protein C, DRVVT, Toxoplasma, Anti-cardiolipin, fibrinogen, Protime, parital thromboplastin time). Of those only the fibrinogen was abnormal. The level was 473 mg/dL. Everything else was solidly in the normal range. Thanks again for your time.

   

• At Thu Mar 13, 08:30:00 AM 2008,  TammyEJax said…

  Hi, my name is Tammy and I am writing about my daughter Kayla. In January of 2007, Kayla gave birth via emergency c-section because of placenta abruption to a 27w 3d, daughter. Thanks to a wonderful team of neonatologist and a fantastic level III NICU, my granddaughter is thriving. Kayla is now pregnant again. Although, no explanation was found for the previous abruption, the doctor finally agreed at 12 weeks to order blood screenings. Kayla tested positive for MTHFR mutation with elevated homocysteine levels. The ob/gyn put her on folgard and her prenat-vitamins once a day. The only other test he has ordered has been a level 2 ultrasound next week which will be 19 weeks gestation.
  
  He has not referred her to any other specialist.
  
  Is this enough? Is there anything else we should be watchful for or concerned about?
  
  Until the abruption, her previous pregnancy was progressing normally. She noticed the baby's activity had decreased and went to the hospital just to have it checked out which is how the abruption was discovered and the baby saved.
  
  Thank you for your time

   

• At Thu Mar 13, 03:38:00 PM 2008,  Anonymous said…

  Dr. Trofatter, I have had two early miscarriages. (After having a normal, succesful pregnancy 3 years ago). Blood tests show that I have MTHFR mutation A1298T heterozygous and anticardiolipin antibody IGM elevated (IGg is normal). My doctor said that since I have had to miscarriages I should take Lovenox injections when I get pregnant again. What do you think? I had low progesterone during the second miscarriage (not tested at the first one). Thank you so much, Valerie

   

• At Fri Mar 14, 02:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Dr S Mar 10: Both the neural tube defect and the congenital heart defect in your twins might well have been the result of relative folate deficiency. Although I do not have a lot of experience with antifolate receptor antibodies, my experience with autoimmune conditions related to autoantibodies would lead me to suspect that low-dose prednisone is NOT the answer. I will look into this more, but my gut tells me that high dose folic acid and B-complex vitamin supplementation is the way to go and either higher dose prednisone and/or IV Ig. I have used prednisone for various reasons during pregnancy over the years and generally it appeasr quite safe. The primary complications I have seen are increased risk for gestational diabetes, premature rupture of membranes and early delivery. Hypertensive disorders also occur frequently in women who require prednisone, but that may be more an effect of the underlying conditions being treated than the drug itself. Thanks for reading and if you find out anything else, let me know! I am here to learn too! Dr T

   

• At Fri Mar 14, 02:41:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kathy Mar 13: You did great with the extra information. From what you tell me, we really do not have a reason for the loss of this baby. There could have been some kind of 'genetic problem' but if so, we will probably never know what that is. In all honesty, what I said previously holds, however, taking heparin is not as bad as it may sound and it is relatively safe druing pregancy. I would only suggest a 'prophylactic' rather than therapeutic' dose, but you should probably get a second opinion from a local maternal-fetal specialist who could help care for you. I may be wrong, but I still think, with the normal growth and Doppler flow studies, this was NOT an abnormality of placentation associated with MTHFR that caused your loss. Thank you so much for reading and again, we are very sorry for your loss. It is so hard anytime, but especially that far along in a pregnancy.
  Dr T

   

• At Fri Mar 14, 03:08:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Erica Mar 10: I think you are taking an appropriate amount of folic acid and the rest of the regimen sounds good to me at this time. If you have any complications this pregnancy, you might need a higher dose of the heparin the next time around, but I think you are in good hands for the time being! Best of luck to you and let us know how things turn out. Dr T

   

• At Sun Mar 16, 06:28:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tammy Mar 13: The first steps in your daughter's management are the extra folic acid and B-vitamins. Because she had a placental abruption the last time, and also has had elevated homocysteine levels, many specialists will now recommend additional treatment with prophylactic levels ( at least) of heparin or low-molecular weight heparin as well, although there are differences of opinion on this point. (I would suggest that she ask to see a specialist in Maternal-Fetal Medicine for a 'second opinion'). We also usually perform serial growth and Doppler flow studies (to see if the baby is having any trouble pushing blood through the placenta)on the baby starting at about 24 weeks and continuing every 3-4 weeks until we feel comfortable the baby is at low risk for complications related to 'placental insufficiency'. Thanks for writing and let us know how things turn out! Dr T

   

• At Wed Mar 19, 06:12:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Valerie Mar 13: There are so many differences of opinion about this. Personally, in the absence of other risk factors and abnormal laboratory tests, I would just place you on supplemental folic acid and a baby aspirin daily and then use progesterone support early in another pregnancy. I am not sure you really need the Lovenox and it is VERY expensive. Ask your doctor to send you to a specialist in Maternal-fetal Medicine for a "second opinion" before you get pregnant again. Good luck and thanks for writing! Dr T

   

• At Mon Mar 24, 06:34:00 PM 2008,  Anonymous said…

  Hi Dr. Trofatter. This is Karen from January 31 post. I am sorry to report that we lost this baby too at 13 weeks 4 days. She tested a normal female. I was sent for recurrent loss testing and found one mutation of C677T, normal homosyteine level and a PAI-1 level of less than 2. The RE who helped us get this baby put me on 4 mg of folic acid (1mg is with my prenatal)but no baby aspirin.
  Am I missing something? The ob wants to send me to a peri. I would love any suggestions.

   

• At Wed Mar 26, 03:44:00 PM 2008,  Anonymous said…

  Hi Dr. T, it is Erica again. I will show you my original post and then your response and then my new question.
  Here is my original post for my background:Hi, my name is erica and I am currently 16 weeks pregnant. This pregancy happened b/c of IVF. I have unexplained infertility. I have had 2 previous miscarriages. One at 9 weeks (we saw the heartbeat 3x's), and a chemical pregnancy. These where also IVF attempts. I was then tested after my first miscarriage and I have Factor V, decreased protein S, protein C resistance, and homozygous MTHFR A1298C . I am currently on 30 ul (30 units) of innohep, 1 tab of Folgard, prenate elite vitamin, expecta. Do you feel this is enough folic acid
  (3.2mg) and would you change anything in my tx regimen. Thank you for your time.
  
  Here is your response:To Erica Mar 10: I think you are taking an appropriate amount of folic acid and the rest of the regimen sounds good to me at this time. If you have any complications this pregnancy, you might need a higher dose of the heparin the next time around, but I think you are in good hands for the time being! Best of luck to you and let us know how things turn out. Dr T
  
  My new question is when should my dose increase and to how much? I would realy hate for something to go wrong b/c I did not get enough. I am seeing my high risk doc next week and getting my 19 week ultrasound. He is a great guy and is willing to listen to all of my concerns. I really value your opinion! Thanks again.
  Erica

   

• At Wed Mar 26, 05:45:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Karen Mar 24: I am so sorry for your loss. Why don't you see a perinatologist. You might have something that defies a complete diagnosis at this point and would be a candidate for 'full court press' empiric therapy - including heparin or low-molecular weight heparin. Good luck to you and let us know if they find out anything else! Dr T

   

• At Wed Mar 26, 05:48:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Erica Mar 26: Talk to the Maternal-Fetal specialist. With your multiplicity of 'risk factors', personally, I still would lean toward a higher dose. It is not unusual for us to increase the dose later in pregnancy anyway to accomodate for the usual increases in weight and blood volume that occur. I think you are in good hands, but please let us know what your doctors decide and how things turn out in the end! Dr T

   

• At Thu Apr 03, 09:59:00 AM 2008,  Larissa said…

  Dr. Trofatter, Hi my name is Larissa, I was just last week diagnosed with MTHFR- Homozygous A1298C. My homocysteine levels are normal. I have had 3-1st trimester miscarriages and with my daughter born December 2004, my placenta abrupted in hospital and I had emergency c-section. Later found out that the placenta had a blood clot. My husband and I are on the fence as to have any more children. So, I am trying to gather as much info as possible as to chances of Chromosome abnormalities and Neural tube defects. My ob/gyn has advised me that when she can verify that pregnancy is in uterus, she will start me on Heparin BID, and progesterone (I was on this with my daughter before diagnosis). I am currently taking Folic acid 3000 mcg along with my prenatal vitamins. Any Information is greatly appreciated.

   

• At Thu Apr 03, 06:11:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Larissa: From what you have told me, you are in GOOD hands with the plans that have been proposed to you for medical treatment given your MTHFR status and pregnancy history. Are you still at risk? Yes, but those medications should minimize the risks for both you and a baby, presuming the MTHFR polymorphism is your only underlying problem. Good luck! Dr T

   

• At Sat Apr 05, 08:08:00 PM 2008,  William said…

  Dr T, Hello, my name is Jennifer and DH and I have been trying to conceive for several months now. I have had 2 m/c one 12/05, one 12/06, both of which were early, at the first ultrasound no sign of a heart beat was found with both pregnancies. After our past, I decided to make an appointment with my OB to see what we were doing wrong.We went to the appointment on 3/5 and after 8 different blood tests everything came back norman execpt my MTHFR, I have this mutation. Not sure which one, but i do have it. She gave me a script of Mantex??? it is supposed to have both folic acid and the vitamins i need. Long story short, we found out i am pregnant, just 4wks and 3 days along. I take my script daily, and my first visit for an ultrasound is on 4/28, here is my questions, what are the odds of having a heathly pregnancy with this mutation. And should i be doing anything else? I try to eat at least 3 foods a day with folic acid in them as well, since i know this is a key vitamin in the babys growth. What are you thoughts??

   

• At Tue Apr 08, 05:03:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To William Apr 5: Your odds are very good if your only problem is a single MTHFR mutation. Many, many women carry single mutations and NEVER have a problem with pregnancy. It is also possible that your MTHFR mutation had nothing to do with your previous losses! But, you are being treated appropriately for that concern. good luck and let us know how things turn out! Dr T

   

• At Mon Apr 14, 08:09:00 AM 2008,  Anonymous said…

  Hi Dr. T. This is Kathy again. I posted a few weeks ago about my 28 week loss (I've included your last response to my post below to help jog your memory - in short, I'm compound heterozygous for MTHFR, no clotting disorders or personal or family history of clotting, with a small clot in the placenta, normal baby growth, normal doppler). Since I last wrote, I went to see an MFM specialist at a local well-regarded teaching hospital. The doctor I saw is the head of the MFM group and concurs with you and other doctors I've consulted that there is no good theory for what caused my loss. On the MTHFR issue he went so far as to say (1) he wished they had never invented the test for MTHFR because the mutation is irrelevant if you don't have high homocysteine and (2) he thinks heparin is a bad idea for me, just go with aspirin and increased folic acid. So, I continue to be confused on the MTHFR issue and will have to sort that out with my OB if I get pregnant again. But, the MFM specialist has also confused me even more. He said he thinks there is a 5 - 10% chance (at most) that I could have a uterine abnormality (the septum). I have a 2 1/2 year old daughter after a totally healthy and uncomplicated pregnancy (she was 8 lbs 1 oz and 21 inches and I was induced at 42 weeks). When I was pregnant with her, she was very active and I watched her move, roll and kick from one side of my belly to the other, didn't seem like there was anything in her way. I asked the MFM specialist how I could have that experience in my first pregnancy and have a uterine abnormality. His answer was that it is because my first pregnancy was normal that he thinks the chances of a uterine abnormality are only 5-10% not higher. He explained the test to diagnose (with the ink etc.) and explained that it carries a minor risk of infertility. My question is do you think that a uterine abnormality is possible in my case? I've read your posts on the subject and I think I read them to mean such an abnormality would typically be associated with an early loss (which to me would explain why my OB never brought this up as an issue worth investigating).
  
  Sorry to keep posting to you, but I really wish you were in my neck of the woods because I think I would become one of your patients. Thanks again.
  
  
  To Kathy Mar 13: You did great with the extra information. From what you tell me, we really do not have a reason for the loss of this baby. There could have been some kind of 'genetic problem' but if so, we will probably never know what that is. In all honesty, what I said previously holds, however, taking heparin is not as bad as it may sound and it is relatively safe druing pregancy. I would only suggest a 'prophylactic' rather than therapeutic' dose, but you should probably get a second opinion from a local maternal-fetal specialist who could help care for you. I may be wrong, but I still think, with the normal growth and Doppler flow studies, this was NOT an abnormality of placentation associated with MTHFR that caused your loss. Thank you so much for reading and again, we are very sorry for your loss. It is so hard anytime, but especially that far along in a pregnancy.
  Dr T

   

• At Tue Apr 15, 06:50:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Kathy: So, the saga continues. Like I probably told you before, in the absence of a good explanation, there is probably no 'right' way to manage you. I do lead toward the advice of your MFM with regard to the MTHFR as you already know. Of course, there is always the concern that you have something else wrong that we are not smart enough to look for at this point.
  
  It is simple enough to have your intrauterine cavity evaluated between pregnancies by a sonohysterogram and/or hysteroscopy. I would suggest you have that done by a specialist in Reproductive Endocrinology and Infertility, but I doubt from what you have said, they will find much to worry about. Hang in there girl and thanks for staying in touch! Dr T

   

• At Fri Apr 18, 12:43:00 PM 2008,  Anonymous said…

  Hi, My name is Bonnie. In the past couple of years I have had 3 miscarriages, all ending early around 6-7 weeks. Since then I have been diagnosed with the heterozygous MTHFR gene mutation (one mutation C677T and one mutation A1298C). My homocysteine levels are normal. My RE put me on Baby aspirin, folic acid (Matenex)and Prenate DHA 3 months before I got pregnant. I also was put on progesterone support for the first 10 weeks. I am currently 20 weeks pregnant. Should I be on blood thinners or does it seem I am on the right path. Any input would be welcomed, thanks!

   

• At Sun Apr 20, 06:51:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Bonnie: No, I would not put you on anything except what you are taking right now! Sounds like things are working out just fine. Let us know how everything turns out. Dr T

   

• At Mon Apr 21, 11:57:00 PM 2008,  Anonymous said…

  Hello, I have a few questions for you :) I am a 24 white female with no health problems, was seen for elevated "bad" cholesterol @ 218 in 2002. and have had an occasional ovarian cyst now and then. I have been pregnant a total of 5 times with no live births when I was 16 I had a therapeutic abortion @ 11 weeks 6 days ( a very emotionally devastating decision, something I would never do again)but everything with that pregnancy was healthy I did have very light spotting in the begining that lasted less than a day and went away, but b/c of my age and my boyfriend @ the time decided to have an abortion. then in 2005 found out I was pregnant and @ the 7 week ultrasound found out it was a blighted ovum and had a d&c. in march of 06 my period was late I took a hpt and it was positive, and approx 1 week later started to cramp,I did not get to he doc before I started to bleed like a period and I assume this was a m/c but b.c I had not been in office and had the preg. confirmed they have not treated that as a m/c..... but then in feb 2007 I had very light brown spotting @ day 17 of my cycle with back pain had a pregnancy test done and it was positive my hormone levels were only in the 80's nothing visable on the ultrasound and was told It was a chemical pregnancy and I m/c naturally a week later, then in jan of 08 found out I was pregnant and began spotting brown red, @ exactly 5 weeks had an ultrasound & was told I had a SCH and it would probably resolve itself without and further problems. but they did put me on pelvic rest and saw me in office @ 6 weeks 5 days and heartbeat was confirmed and then 4 days later had an ultrasaound done b/c of cramping and continued bleeding and the heart had stopped, and it was determined to be fetal demise I was supposed to be 7 weeks 2 days and the fetus measured 6 weeks 5 days I waited a week to m/c on my own and I didnt eventually had a d&c a week and a half after I found out the heart had stopped. FYI (the last 3 m/c were by the same father; who has 2 children and 1 child with spherical red blood cells) (he was tested and it was determined it was not hereditary) My doc decided not to test the fetus (he didnt say why)and stated I produced everything I was supposed to during pregnancy my progesterone levels were fine and my hormones were where they should be he said he believed it was probably an autoimmune d/o and thought I may be developing tiny clots in the placenta which interupted blood flow to the fetus or I may anticardiolpin antibodies and stated that I should just take a baby aspirin a day every day as soon as I know I am pregnant and this would increase my chances of having a successful pregnancy, They did however agree to do genetic testing and they tested me for protein c pothrombin antigen factor iv and karyotype & a few others and the only thing that came back was heterzygous mthfr c677t, I have not been in office to discuss my results and only know them because I requested a copy from the lab since its been 3 weeks and I still havent heard back from my doc and we havent discussed our "game plan" for me TTC ( i have now had 2 menstral cycles since my d&c) I would like to know your thoughts... and what you would reccmoned....is this the reason for my several m/c ?? what are the chances of a healthy pregnancy? just as an fyi I am still taking my prenatal vitamins and a daily baby aspirin...and I do plan to continue to take them while i am TTC....is this something my family members should be tested for? my mother has had placental abruption,athersclerosis, HTN and spinal stenosis is there any correltion?

   

• At Tue Apr 22, 04:03:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 21: There are more questions that I have for you than answers at this time and there are many reasons you could be miscarrying early. I would suggest either a full workup by a specialist in Reproductive Endocrinology and Infertility or simply trying the 'full court press' empiric therapy. I wrote a whole series of articles on recurrent pregnancy loss back in March or so last year. Why don't you check those out and then see if you have anymore questions. In one of the last posts, I summarize approaches to therapy. Thanks for reading and let me know if you have any more questions. Dr T

   

• At Thu May 29, 11:04:00 AM 2008,  Anonymous said…

  Dear Dr:
  I recently lost my child at 5 months due to a blood clot that moved and pulled the placenta away from the uterin wall. Prior to going into labor, the doctors had sent off lots of blood work due to the blood clot that I had. After losing the baby, we found out that I am heterozygous for the MTFHR mutation A1298c. So, I have least extreme version. However, to me... losing another baby or getting more blood clots sounds serious. My question is about birth control. My husband and I want to wait a while before we try to get pregnant again, so my OB prescribed Mircette as an oral contraceptive. I don't know much at all about birth control pills... so I tried to research Mircette. I am just afraid that this particular pill (or maybe all birth control pills) will contribute to blood clotting. The OB also said that I could start taking baby asprin now if I would like. Should I take Mircette? Should I take Mircette in conjunction with baby asprin and folic acid? Should I take birth control pills at all?
  Thanks-Allison

   

• At Thu May 29, 06:24:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Allison: First of all, I am sorry for your pregnancy loss, but it really may not have been related to your single MTHFR polymorphism. With regrad to the Mircette, it is agood, low-dose oral contraceptive. There are probably MANY, MANY women out ther who have a ingle MTHFR A1298C mutation that are on it or other hormonal contraceptives and are not aware of it. I am not aware of any studies that look at Mircette and this mutation, although the more severe genetic thrombophilias do increase risks for thromboembolic events on OCPs, especially, if one has other risk factors (such as a history of deep venus thrombosis, diabetes, obesity, smoking, etc.). Regardless, taking a baby aspirin and extra folic acid would probably reduce your risk and should be safe enough. If you still have concerns, you might ask your doctor to check a fasting homocysteine level before and a month or two after being on the pills. And, of course, you could consider other forms of contraception! Best wishes and I am sorry I could not be of more help! Dr T

   

• At Mon Jun 02, 07:08:00 PM 2008,  Anonymous said…

  Hi my name is Erin. I have recnetly been diagnosed with homozygous MTHFR C677, with having my homocystine levels comig back normal both times I was tested. I was tested in the first place because I was having numbness on one side of my body and with having a history of clotting and strokes in my fanily my Dr. sent me to a hematologist to have bldwork done. The MTHFR gene is the only abnormality that came back on my labs. My question is that my husband and I are trying to conceive and I am concerned about chances of miscarriage and birth defects. I am more aware now that I have visited this site. My doctor prescribed Foltx. should I be taking this in conjunction with a prenatal vitamin? What are the risks of miscarriage and birth defects? Thank you for your time

   

• At Wed Jun 04, 07:28:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Erin: Your family history and your own history of left-sided numbness bother me. What has been done to evaluate that and what have they found? At this point, the extra folic acid, a prenatal vitamin, and perhaps a baby aspirin are all I would recommend and these will minimize your risk for congenital birth defects (neural tube, cardiac, abdominal wall, midline facial) that may be associated with MTHFR polymorphisms. Yur risk for miscarriage is hard to predict under these circumstances because there are SO many different reasons miscarriage can occur in early pregnancy. However, you need to still be watched very carefully for blood-clotting problems during pregnancy and treated aggressively should they occur. Best wishes to you and thanks for writing! Dr T

   

• At Mon Jun 16, 11:53:00 AM 2008,  Anonymous said…

  My name is Joanne. I am 41. I have given birth to three full term, healthy children, ages 15, 12 and 11. My first child has spina bifida occulta, which has not caused any known problems. I am a tremendously healthy athlete. At age 38 I shockingly suffered a heart attack and was found to have an ASD, which has since been repaired. I continue to have abnormal heart rythyms, but nothing worrisome. Last fall, at age 40, I was diagnosed on routine mammogram with DCIS in my left breast, resulting in bilateral mastectomies. Suspicious cells were found in my right breast as well. Post surgery I experienced what (looking back) I think was a TIA. Six days post reconstrucion surgery, I suffered two documented TIA's, at which time (during hospitalization) I was found to have old stroke damage. Because of all of the above events, I was tested for clotting disorders and was found to be MTHFR homozygous for C677T and my Factor VIII was slightly high at 158. Homocysteine was normal at 7.0. I have been advised to take aspirin 325 mg and high dose multivitamins. I feel like a walking time bomb, waiting for the next event. Should I have my children checked for MTHFR &/or heart defects? Thank you for responding!! I am lost in this new world of health questions. p.s. I have a 46 year old brother who had a huge ASD repaired at the age of 18, and our sister died at age 35 of what we assume was a heart attack. She was mentally retarded since birth with CP and severe epilepsy, but was actually quite healthy and suddendly passed away.

   

• At Mon Jun 16, 05:05:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Joanne With your hstory and your family history I would certainly recommend that you have your children tested for congenital heart defects and perhaps, the thrombophilic abnormalities for which you have tested positive. Did they think your TIA were related to the ASD? Were you screened for antiphospholipid antibodies? Have you sought consultation yet with a hematologist? There may be some other conditions for which you can be tested that might be placing you at even greater risk! Thank for reading and best of luck! Dr T

   

• At Thu Jun 19, 03:17:00 PM 2008,  Anonymous said…

  Dear Dr. Trofatter, This is "anonymous" Joanne of Monday, June 16, 2008. In response to your questions, all of my events (including TIA's) have left my doctors scratching there heads. My ASD repair (with an Amplatzer Occluder Device) was rechecked post TIA with a TEE, and all was well. Other than MTHFR, Factor VIII and homocysteine, I was also screened for PT, APTT, LA (is this antiphospholipid antibody?), antithrom III and APC resistance, all of which were normal. I am planning to have my children checked for heart defects, although I had several tests before they finally found mine with a TEE, which was quite horrible. I have an appointment in two weeks with a hematologist specializing in clotting disorders at IUPUI and am interested in what conditions you think I might be screened for. I believe that you cannot be too well-educated regarding your health! One more thought: my father (who is deceased) and two of his brothers had/have pulmonary fibrosis, also genetic. I have been noticing difficulty breathing while exercising for the past two years, but have been told "not to worry" by my doctors. I find very little information on the internet regarding PF. Would I be more susceptible than your average person? Thank you for your time!

   

• At Fri Jun 20, 02:35:00 PM 2008,  Anonymous said…

  Hello doctor, My name is Dolly.
  I was 20 weeks pregnant when the fetus was diagnosed with truncus arteriosis or tetraogy of fallot with pulmunery artesia. My chromosomal results are yet to come. Down syndrome blood test was tested negetive.
  We both have no heart disease history. We both are non smokers and do not drink alcohol. I had a Dand E surgery last week. Could you please tell me what precautions should I take from now on. I was given progestrone vaginally during my 10 weeks. Is this defect recurrent? How much folic acid should I take. Please reply back at dolly262@gmail.com as well. Thank you so much

   

• At Sat Jun 21, 07:03:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Joanne: You have probably reached the limits of my expertise, although I will continue to ponder your situation! I would start with the specialist in hematology and then you might consider seeing either a neurologist or a specialist in stroke. It probably would not hurt to have a "stress test" done and pulmonary function tests either! I will be very curious to see what your doctors find out. Please stay in touch! Best wishes. Dr T

   

• At Sat Jun 21, 07:07:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Dolly: I am so sorry: Is there any other family history of congenital heart disease. If the baby is chromosomally normal, you might consider getting screened fot MTHFR polymorphim and having a fasting homocysteine level done. I would also recommend a discussion with a good genetic counselor. In cases like yours, I usually prescribe 4 mg folic acid daily along with B complex vitamins. Kind regards, Dr T

   

• At Sat Jun 21, 08:52:00 PM 2008,  Anonymous said…

  Hello,
  
  My daughter is 10 years old. When I was pregnant with her I took great care of myself and had a scheduled c section with no complications.
  
  She began having headaches and it was discovered through an MRI without contrast, multiple moderate sized white matter lesions scattered throughout the cerebral hemispheres, seen in the region of the U fibers just deep to the cerebral cortex. They measure about 1cm or slightly greater. They are scattered throughout the frontal lobes, parietal lobes involving visual radiation and to lesser extent on the temporal lobes.
  
  The MRI with contrast revealed the lesions are more numerous with greater involvement high in the centrum semiovale. The lesions in the parietal region appeared more prominent and there is involvement of the deep white matter bordering the occipital horns. None of the lesions show enhancement, no mass effect and are essentially nondetectable on the T1-weighed images. 3D time of flight arterial MRA was performed and shows normal appearance of the internal carotid, middle and anterior cerebral arteries. Normal appearance of the vertebrobasilar system and posterior cerebral arteries. Circle of Willis shoes no aneurysm. No occlusive disease, vasculitis changes, or neoplastic vascularity. No AVM or aneurysm identified.
  
  The 3rd MRI six months later showed no change.
  
  I communicated this new info to her ophthalmologist during a visit. She was diagnosed with esotrophia at 9 months. The ophthalmologist requested an MTHFR test. The test came back positive for one copy of C677T and one of A1298C mutations. The report said the test cannot determine whether each mutation is on the same or different chromosome. To determine this I had an MTHFR test it came back positive for two copies of the C677T mutation and does not have the A1298C mutation.
  
  She will be having another MRI soon to check for any changes. The headaches have diminished and she now receives medication when necessary. There are no other neurological findings. The hematologist indicated the results of the MTHFR are of no concern at this moment. Tests on the homocysteine levels will follow but the hematologist says there is no urgency.
  
  On my end I am on B12, my cholesterol is now 207 and was always in the hundreds. I was very thin being 90 pounds until I reached 40 when weigh gain now at 115 is of concern being 5' 3". My daughter also is built like me, thin.
  
  I should mention that I had two miscarriages before and after the birth of my first daughter.
  
  
  
  My questions are:
  
  1- Would her dad have the A1298C mutation? He has not tested himself yet.
  
  2- Why would the ophthalmologist request the MTHFR test just by reading her report findings or an abnormal MRI?
  
  3- What is the relation of these findings to mental illness, heart disease or any other illness? I have read reports of method of diagnosing schizophrenia by detecting a mutation in the MTHFR gene.
  
  4- What should I be most concerned about? Given the fact that I am extremely worried about her.
  
  5- What other findings are associated with this evidence?
  
  6- What other reports would you suggest I read?
  
  7- Would an MRI show I have lesions just like she does?
  
  8- Should I be concerned for my other daughter who is six?
  
  9- What type of genetic counseling should I seek for her? The family? This was suggested in the MTHFR report.

   

• At Wed Jul 09, 03:51:00 PM 2008,  Lisa said…

  Hi, my name is Lisa and I have gathered so much knowledge from reading others posts and your responses. Thank you for all that you've done with researching this important area!
  I recently gave birth at 35 weeks to a baby girl who weighed 3lbs 11 oz. and hard a congenial heart defect which unfortunately took her life at just 10 days of age (the defect was a coarchtation of the aorta which when the valve closed after 9 days, caused her to develop NEC which led to her demise before surgery could be done on the heart). I have been diagnosed with Homozygous C677T MTHFR mutation and am wondering what the treatment should be to prevent this from occuring with future pregnancies. I have seen a hematologist but she indicated that she did not feel that my MTHFR mutation had anything to do with the heart defect, which I found confusing based on what I read here.
  
  Just to give you more info. on my pregnancy:
  I was placed on bed rest at 5 months due to pregnancy induced hypertension. The mutation was not discovered until month 7 of my pregnancy and at that time I was instructed to take a baby aspirin and continue on my blood pressure medicine, Labatelol. The baby was small for gestational age, but other than the heart defect had no problems at birth.
  My homocysteine levels were elevated throughout my pregnancy and continued to be elevated through 10 weeks postpartum. I was on Heparin to treat that for the 3 weeks prior to her birth (while hospitalized) and then for 10 weeks afterwards.
  
  
  I am trying to get some answers about this heart defect and the relationship to the mutation that I have. I also would like to know what treatment I should be on now in preparation for future pregnancies. Thank you for any info.

   

• At Thu Jul 10, 02:31:00 PM 2008,  Anonymous said…

  Dear Dr. Trofatter, This is "anonymous" Joanne again of June 16th and 19th with a follow-up for you: I saw a hematologist at IU Med Center last week regarding my homozygous MTHFR with history of ASD, heart attack, stroke, breast cancer and TIA's prior to age 40. (I am now 41) His advice to me was to continue on aspirin 325 daily plus huge amounts of folic acid and B vitamins. (I am waiting on his letter for the exact dosage) He told me that the MTHFR was a contributing factor but not the cause of any of my health chaos. (to remind you, I am in the "athlete" category and also a devoutly healthy eater) He said that there are "underlying factors" within me that have caused my health to be compromised, even though I look and feel exceptionally well. I was hoping to hear that my "events" were caused by the MTHFR and that by making up for the reduction, thereby reducing my clotting tendencies, I would not have to worry about future problems. He said that while I have other health issues yet to be discovered, he does not know what they might be nor how to test for them. So, basically, I was sent home wondering when my next major event will be...not very reassuring! None of my many doctors have any interest in my sister, who had extensive birth defects and died at age 35, nor my brother and aunt who had ASD's, nor my father and his two brothers who have/had (deceased) pulmonary fibrosis. Add to that my mother and father who each were diagnosed with cancer. I think I have an interesting genetic history going on, but am unable to get any genetic counseling or even any information. The doctor at IU felt that the MTHFR was a very tiny piece to the puzzle. Do you agree? Am I a walking time bomb? I feel very dismissed. I am interested to see if you have any further thoughts or comments. Thank you so much for your time!

   

• At Sat Jul 12, 05:22:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Lisa July 9: I am so sorry for your recent loss. Certain cardiovascular malformations may well be associated with MTHFR polymorphisms. To prepare for another pregnancy, I would suggest starting folic acid 4 mg daily in addition to supplemental B-complex vitamins. It will be worthwhile to see if these lower your fasting homocysteine levels a month or so after starting the vitamins. In your case, I would offer you a baby aspirin (81 mg) daily as well. Best wishes and thank you for writing. Dr T

   

• At Sat Jul 12, 05:30:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Joanne: I think the IU doctor was just being honest with you. He/She simply does not know at this point! In your case, the MTHFR polymorphisms MAY be more significant because of your genetic background, so the treatment is certainly logical and only time will tell if it helps. It certainly should not hurt! And, then again, you may have some other predisposing factor that we have just not learned to screen for yet. I wish I could be of more help, but I will keep your situation in mind and if any bright thoughts jump into my head, I will let you know. Best of luck! Dr T

   

• At Sun Jul 13, 10:54:00 PM 2008,  Kristy said…

  Hi, first I just want to say thank you for all of these wonderful postings...they are so informative and such a blessing to someone trying to figure all this out. This is all very confusing and I feel like I have had to be completely proactive about finding a solution to my recurrent miscarriages and so I very much appreciate all your beautiful stories and terrible pains. And to you, (on-line doc ) thank you for the wonderful help and information that you freely give to benefit the lives and plights of so many people and families….I am 31; I have 3 children from my first three pregnancies. I feel very lucky to have had no complications. Then my 4th pregnancy ended last Oct. at 12 wks 3 days when we went in to hear the heart beat but the baby had died and there was no heartbeat. Ultra sound showed nuchal translucency. I had a D&C. 3 months later with my 5th pregnancy same thing; at 10 wk ultra sound my ob thought he saw the NT again and referred me to the Maternal Fetal Medicine specialist who did and ultra sound and told me that he couldn’t tell anything until 11 wks and told me to come back at 13 weeks. - I should have followed my gut and said I wanted to come in sooner...the 13 wk ultra sound showed the baby had also died about the exact same time. 12-13 wks. We were devastated. They ran chromosomal testing on the tissue samples from my D&C but it turned out it was not viable and they couldn’t tell anything. When I got my blood work back my OB told me that it all looked normal the only thing was I had this Homozygous mutation but he said that he didn’t see that as being the cause and that everything else was normal. (Which is actually quite frustrating now after all the research I’ve found to prove other wise.) I was very discouraged and scared about trying to conceive again and I recently talked to him about the possibilities of being on progesterone and he didn’t think that would make a difference either for my situation but said we could try it next time. When I asked if there was anything else we could do he told me “not really” but then found out from a colleague about increased folic acid and B12. He also recommended that we test my husband for the same mutation to help us understand our odds. It wasn’t until I saw the lab order that I found out that I DID test Homozygous for MTHFR mutation A1289C.. That is when I began to research all of this and started this crazy “journey of knowledge” that I’ve recently been on learning about all of this online and I was amazed because now I had found all this info about this mutation and to ME, it seemed like a direct correlation between the mutation and my pregnancy losses. So I immediately called him and asked if I could start taking the supplements and he gave me the go-ahead for 4mg of folic acid and then B12 and B6 but he didn’t tell me how much. I am currently on 500mcg of B12 and 100mg of B6. Like everyone else, we want so badly for this to work next time around and not to have to suffer through another loss so my questions are:
  
  #1- Is this a high enough dose of B-12 and B-6?
  #2- My doc never mentioned my homocystiene levels but since I am homozygous do I need to be on some kind of blood thinner too? (Baby asprin, Lovenox,?)
  #3-How long would you recommend taking these supplements before trying to conceive again. (I’ve been on them for about 2 weeks now.)
  #4- Do I need to have my children/parents/siblings tested?
  #5- If this is something I was born with, why has it only become and issue now, after 3 healthy pregnancies?
  
  Any information you have would be so helpful, thank you again for your time and concern.

   

• At Tue Jul 15, 10:50:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kristy: I know I answered most of these questions for you under other posts, but let me summarize here: 1) despite your losses, there is no certainty that these are at all related to your MTHFR polymorphisms! That is especially true because of your pregnancy success prior to the miscarriages. the most common cause of early pregnancy losses are still chromosomal abnormaities. 2) You are on adequate 'treatment' and the folic acid should reduce the risk of any contribution of the MTHFR abnormalities to either pregnancy losses or birth defects. 3) I do not recommend Lovenox or heparin at this time. The most I would suggest is a baby aspirin (81 mg) daily. 4) Unless there is a family history of thromboembolic complications, no one else really needs to be tested at this time. All of your kids will have at least one dose of the MTHFR polymorphism inherited from you. Good luck and RELAX! Dr T

   

• At Fri Jul 18, 12:39:00 AM 2008,  Anonymous said…

  Hi Dr. T
  My name is Beth. I am a 31YO who has had 3 m/c with two successful full term pregnancies. 1st pregnancy resulted in full term delivery of normal female(1/01), now 7YO. Have remarried since her birth and had two consecutive m/c, the 1st very early maybe 4 wks(12/04). The second was 9wk4d(9/05). This was followed by D&C, hysterosalpingogram, various bloodwork including clotting disorders, lupus titer and genetic karotyping of myself and my husband. All came back normal. We got the go ahead to start trying again and did conceive. This pregnancy did carry to term and delivered a baby boy with Down's Syndrome(11/06). He did not have any heart defect or hasn't had any other health or developmental concerns to speak of. He is doing very well. I did conceive again when he was about 5 mos old, not planned. This also ended in an early m/c around 4-5wks I think. After this, my OB referred me to an REI and I was tested further for clotting disorders and also MTHFR. The results did show that I have this mutation. Sorry, I can't remember all the specifics about what kind, etc.. I do remember that the Dr. told me that I had received a mutation from my mother and my father and that I had the part of the mutation that interferred with the metabolism and use of folic acid. He did mention that I did not have the mutation type that would cause me to have clotting issues. His recommendations were that I take 4mg of folic acid in addition to a PNV and a baby aspirin a day to be on the safe side. Also, during my pregnancy with my son, my progesterone level was low which was determined during some testing at about 5-6 weeks when I developed a subchorionic bleed which did resolve on its own. I was started on Prometrium and continued this until about week 15.
  
  Just wondering your thoughts on any relationship between the Down Syndrome and the MTHFR. And also do you think that I would benefit from progesterone again when I do conceive. My REI did not feel that strongly one way or the other about the progesterone. Thank you for any input or insight you might have for me as these m/c's and the diagnosis of my son have cause some stress and anxiety as we would like to have another child, but unsure of our odds at this time.
  Beth

   

• At Fri Jul 18, 06:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Beth: I wrote a short series on Down syndrome and folic acid metabolism a little over a year ago. Here is the link to the last in that series. Copy and paste in in your browser: http://www.healthline.com/blogs/pregnancy_childbirth/2007/06/down-syndrome-and-folate-metabolism-3.html
  
  To make a long story short, MTHFR polymorphisms might actually improve survivability of babies with Down syndrome!
  
  Regardless, I would encourage you to take the folic acid and even though you and your doctor are somewhat ambivalent about the progesterone, I would probably offer you that as well based on what you have told me. Take care and thanks for reading. Dr T

   

• At Tue Jul 29, 03:49:00 PM 2008,  Anonymous said…

  Hi I have a 13 year old daughter who at 10 weeks began seizing with infantile spasms and they thought that she had had a stroke as initially they only saw one area of damage on the CT scan...spent two months in patient...was thought to have a virus that was causing continued wide spread damage which was never confirmed that made her brain look like swiss cheese...she is severely mentally retarded....about 6 months ago her pediatrician asked to do additional blood work and it came pack positive for MThFr...she said she should be given supplemental vitamins but was unable to say what kind or how much for an 85 pound child....Also is there any therapies that help them gain back any mental abilities?

   

• At Tue Aug 05, 07:36:00 PM 2008,  Shay said…

  Hi. I just found out my son has two copies of the MTHFR gene. I myself have 1 copy. I also have two forms of APS (anticardiolipin antibody) and the Lupus anticoagulant. Amoung a other clotting disorders. I got my son tested for all of the same things I have because he is going to have a heart ablation in a few months. Now with reading more about the MTHFR I noticed that heart defects could be caused my this. Now we found out my son has WPW (Wolf-Parkinson-White) syndrome along with SVT (very fast heart rate)when he was 4 weeks old. Could this be from the MTHFR? And is there anything I should be worry about as he grows up? He is just about 3 years old now and seems fine. His hematologist said he needs to take a vitamin with Folic Acid. but that was it. I just don't want my son to end up like me. I am 27 and already have had blot clots in my lung and two stroke. Any advice will help. Thanks

   

• At Wed Aug 06, 05:57:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 29: I am so sorry for your daughter, but I sincerely doubt her problems are related to any MTHFR polymorphism. A congenital viral infection with CMV could possibly be a cause or a genetic (metabolic) disorder. If she has not been evaluated at a major research center, she really should be - let me know what part of the country you live in and I can suggest some place to take her. Regardless, supplementing her diet with 1-2 mg of folic acid and B-coomplex vitamins on a daily basis should overcome any affects of the MTHFR polymorphism for the FUTURE. I am afraid there is probably very little that can be done for the damage already suffered. Kind regards, Dr T

   

• At Wed Aug 06, 06:03:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Shay Aug 5: Your problems are much more likely to be related to antiphospholipid syndrome rather than any MTHFR polymorphism(s) you may carry, although combined affects do occur. MTHFR abnormalities are assiated with major congenital heart defects, but you will have to ask your son's cardiologist if these have been shown to be involved in abnormalities of the conduction system. The folic acid and B-complex vitamins should help to protect him from major complications related to MTHFR mutations. I would be curious to know, however, if you have ever been checked for two other autoantibodies: anti-Ro (SS-A) and anti-La (SS-B). These ARE associated with conduction system abnormalities in the offspring of mothers who carry them and since you already have had several autoantibodies detected, it might be worth finding out if you also have these! Good luck and let us know what you find out! Dr T

   

• At Sun Aug 10, 08:57:00 AM 2008,  Karen said…

  Dr. Trofatter,
  What you are doing is wonderful! I am 31, very healthy, and have 3 children. The first two were blissfully boring. The third was diagnosed at 20 wks pregnant with Double Inlet Left Ventricle. I have since had two miscarriages. One in Feb at 5 wks with no baby or heartbeat found at 8 wk check up. I had a D&C, but no testing was done. I started the miscarrying process again yesterday and I should be about 7 wks. A heartbeat (76, I wasn't aware this was low) was found six days ago.
  Since I have not had any testing done, my question is, have you heard of miscarriages being common after having a child with a complex heart defect. I was told I raised my chance of having another heart baby from 1% to 3%, but was never told of any miscarriage risk. I will have testing done this time.
  Thank you for your time,
  Karen

   

• At Mon Aug 11, 08:55:00 PM 2008,  Ms. Concerned said…

  Dear Dr. Trofatter,
  Hello, I am a 28 year old, responsible adult. Back when I was a teenage I was a stupid teenager and experimented with a drug called acid and lithum. I went into seizures and was taken to the hospital. Now I am healthy, I eat well and exercise. My question is could this incident of altered my chromosomes? Could something stupid I did over 10 years ago effect my ability to produce a healthy child. I know this may seem like a silly question. But I heard once that acid could damage your chromosome, so I just wanted to get a professional opinion. Thank you for your help - Ms. Concerned

   

• At Tue Aug 12, 07:25:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Karen: Did you have chromosomal studies done on any of the pregnancies you lost or have you and your husband had these done. What sort of tetsing have you had to date. If none, then that's where you need to start, eg., thyroid evaluation, screen for genetic and acquired thrombophilias, sonohysterogram, etc. As discussed in this post, certain congenital heart defects can be associated with folic acid and perhaps B-complex metabolism and deficiency problems and MTHFR polymorphisms may exacerbate these. Let me know the answer to my questions or send the results when you have some studies done and then we can talk more! Dr T

   

• At Tue Aug 12, 07:28:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ms concerned: It is probably not very likely that you did permanent damage to your ovaries. There are many other reasons for infertility that can come about from past histories of 'risky behavior.' If you are having trouble getting pregnant and want to, then go see a good reproductive endocrinologist! Best wishes. Dr T

   

• At Sun Sep 14, 06:15:00 PM 2008,  CarrieHar said…

  Hi, I'm Carrie. Following my 2nd early-miscarriage (6.5wks & 5wks), my doctor ordered bloodwork to explore potential thrombophilia problems. The only abnormal results were related to the MTHFR gene: I am compound heterozygous for the C677T and A1298C mutations. My non-fasting homocysteine level was 9.1.
  
  My doctor did not seem alarmed by these results - in between the m/cs I carried a healthy boy to full-term without complications and without additional supplements (my prenatal vit has 800mcg folic acid) via a spontaneous labor & vaginal delivery. My doctor did start me on 1 po per day of Foltx and 81mg asa. Once I am pregnant again, she will do an early ultrasound, and once a heartbeat is confirmed, plans to start me on an anticoagulant for the remainder of my pregnancy. She would also plan to induce labor rather than allowing it to occur spontaneously in case of clotting problems.
  
  My doctor mentioned that recent studies suggest an anticoagulant may not be necessary for this mutation, but that this regime is her standard practice at this time (she is flexible on this). I would love to hear your thoughts on this regime, as well as whether or not anticoagulants and/or induction would be necessary in my case. I do not have any additional health problems, though I do have a hx of anemia (not currently, and none with previous pregnancy). I am a minimalist when it comes to medications and know that anticoagulants can be very strong drugs. That said, the health of my baby is my first priority and I am willing to do whatever possible to ensure another healthy pregnancy & baby.
  
  THANK YOU so much for your thoughts and your time. Having discovered a number of very frightening, non-medical blogs while trying to research MTHFR, I am so relieved at finding this post and having some of my anxieties reduced. Thanks!

   

• At Sun Sep 14, 06:24:00 PM 2008,  CarrieHar said…

  Hi, Carrie here. I have one more question relating to my last post: Do you think I should see a perinatalogist and/or a reproductive endocrinologist at this stage? Thanks!

   

• At Mon Sep 22, 07:52:00 PM 2008,  Anonymous said…

  I hope I am not being repetative but I could not read all the posts. Twenty days ago my son was born with transposition of the great arteries as well as three holes in his heart. It was a BIG suprise. Eighteen months ago we gave birth to a healthy girl who I only found out I was preganant for two months after conception, so I was not on any prenatal vitamins. When I found out I was pregnant for our son I was still breastfeeding, on prenatal vitamins, but taking a brief hiatus because I was taking prednisone (10mg) and an antiobiotic for my dishydrosis exzema. The doctor said everything looked good.
  
  We were blindsided by my sons diagnosis and can't figure out what happened. My questions are these;
  
  Could the prednisone have caused this?
  Is it possible I wasn't getting enough folic acid b/c I was breastfeeding and taking an O/C vitamin?
  Non of our doctors has mentioned genetic tesing our counseling for either myself or my husband. Is this something we should pursue? My son was also found positive to be a cystic fibrosis carrier, which was ALSO a suprise.
  
  It would be nice to know the answers to these questions for my own curiosity but also for any future children, should we decide to try again.
  
  Thank you.

   

• At Tue Sep 23, 05:52:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Carrie: I am not sure the MTHFR polymorphisms contributed at all to your miscarraiges! Chromosomal abnormalities are still the most common causes of early losses, especially in women who have previously carried a pregnancy to term. The folic acid and baby aspirin should minimize your risks for any affect of the MTHFR mutations, and of those two, the folic acid is more important (and safer) to take. In fact, you could discontinue the aspirin at 20 weeks if the pregnancy is going well. I would not place you on heparin or lovenox based on your miscarriage history and the MTHFR abnormalities alone. At this point, I don't think you need to see a perinatologist or an REI unless you continue to lose pregnancies or develop a pregnancy complication after you succesfully get through first trimester. Best wishes. Dr T

   

• At Sat Sep 27, 05:53:00 PM 2008,  Anonymous said…

  I have a question for Dr.Trofatter. I was diagnosed with Homozygous MTHFR mutation and had 4 miscarriages along with 2 premature but healthy children. I was treated with heparin, terbutaline and niphedipine (as well as 4000mg folic acid daily and 2 baby aspirins daily) throughout each pregnancy to keep me from going into active labor (I had steady contractions starting 22 weeks with each child). Now, thankfully, I have a healthy 5 year old and 3 year old but have been having chest pains and although I am very active, not overweight and do cardio excercise 45 min 5 days a week, I have a high resting heart rate (of 74-83). Should I be concerned? About a year ago a doc told me I had a murmer (I understand those are fairly common and I shouldn't worry). Do you recommend I see a doctor about this? If so, should I see a cardiologist or hematologist...someone who knows about MTHFR? Thank you for your help! It's nice to know a doctor is informed about MTHFR..I can't tell you how many docs I've seen that don't know what it is.
  
  Carrie

   

• At Sun Oct 05, 04:36:00 PM 2008,  Anonymous said…

  Hello! I am so glad I came across this site! I am currently 31 years old and have heterozygous factor five leiden as well as hetero MTHFR mutation. I was tested because my father and uncle both had DVT's and so I had a full blood work up. For my first pregnancy, my doctor treated me with Lovenox once a day and the pregnancy and birth were wonderfully successful. I am now 11weeks pregnant and the same doctor didn't want to put me back on the Lovenox, but instead wanted to use a baby aspirin to avoid clots. I talked him into putting me back on the Lovenox, however I am now experienceing slight brown discharge about once a day for the last week since I started the injections. I have not had a blood test since I found out this time. Also, my doctor wants to take me off the Lovenox at 20 weeks, but I'm frightened to clot. What is your advice in terms of Lovenox versus baby aspirin for these cloting mutations? Thank you so much!

   

• At Mon Oct 06, 11:27:00 AM 2008,  Anonymous said…

  Dr. Trofatter, I was searching the internet today and saw your blogs. I am surprised to see so many stories similar to mine. I am 37 and have one healthy 3 yo son. we have been trying for the last yr to get pregnant, had 2 miscarriages in 6 months at 9 -10 weeks. I went to infertility specialist and found out I have compound heterozygous C677T and A1298C mutations. Homocysteine level 6.8 which is normal I believe. I am trying to figure out the best approach to this issue - what type of specialist do I need - cardiologist, reproductive endocrinologist? to help us move forward with pregnance options/risks and make sure clinically regardless of a pregancy that I am treated for this appropriately. I had an ASD congenital defect which was repaired when I was 10 years old. Should I be worried about my 3 year old for congenital heart defects also? Any suggestions - I live in Atlanta? Thank you much in advance!

   

• At Mon Oct 06, 06:22:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 22: Cardiac malformations, especially complex ones, are often thought to be multifactorial - there could be a genetic predisposition, an association with essntial vitamin concentrations, other environmental risk factors such as medications, and simply some degree of chance. There are certain chromosmal defects that increase the risk for complex congenital heart disease. My suggestion is that you start with a consultation with a genetic counselor! You and/or your husband is a carrier for CF if your son is also a carrier, so there may be some reason for counseling for that indication as well. With thoughts of any future pregnancy, I would suggest staring high dose folic acid and making sure to have combined first trimester screening and a fetal echocardiogram at 18-20 weeks. It is much better to know about the presence of congenital heart disease BEFORE a baby is born as you found out this time around. Best wishes to you and thanks for writing. Dr T

   

• At Mon Oct 06, 06:26:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Carrie: Have you had fasting homocysteine levels done when you weren't taking folic acid? Your retsing heart rate is not that fast, but if you are concerned about that, you should have thyroid studies done and an EKG. At the same time, you might want to see a cadiologist to evaluate the murmur and to do an echocardiogram. If you bring up your concerns with your family doctor, I am sure a referral can be arranged if necessary. Good luck. Dr T

   

• At Mon Oct 06, 06:30:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 5: With your family history and geb=netic background, I would place you on prophylactic (not therapeutic at this time) anticoagulation for the duration of the pregnancy and 6 weeks thereafter. If we were only concerned about the effects of the genetic polymorphisms on the baby, stopping the lovenox at 20 weeks might be an option to consider, but I am worried about YOUR risk for thromboembolic events that could prove catastrophic during a pregnancy. Good luck and thanks for writing. Dr T

   

• At Mon Oct 06, 06:31:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  REprise to Anonymous Oct 5: Aspirin alone is not adequate anticoagulation under these circumstances. Dr T

   

• At Mon Oct 06, 06:38:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 6: Although you have the MTHFR polymorphisms, youi had them before you ever carried your first pregnancy, so they may not have actually contributed to your miscarriages. Chromosomal abnormalities are still the most common cause for losses under these circumstances. However, at this point, you simply should take high-dose folic acid and B-complex vitamins and probably do not need to see a specialist. If you continue to have early miscarriages, despite that therapy, you should first see a reproductive endocrinologist for a more thorough evaluation. If your child does not have a significant murmur then there is probably no ned for further evalustion at this time. However, cardiac defects can have a familial tendency and I would suggest that with any future pregnancies, because of your own heart abnormality and your MTHFR mutations, the baby should be evaluated carefully by someone who can perform a fetal echocardiogram around 18-20 weeks. Best of luck and thank you for writing. Dr T

   

• At Fri Oct 24, 11:28:00 AM 2008,  Anonymous said…

  Hello, I am Sarah. I am 32 and was just diagnosed compound hetro for MTHFR A and C. I also had an elavated homocystine level of 14. I also tested low-positive for APA - IGM and Protein S. My history, I had an easy pregancy with my son in 2006. Then, 3 early m/c ( at 5 weeks) inthe past six months. I was tested following the last m/c. My dr says not sure that my positive results are causing the m/c because they were so early and my son born in '06. I was prescribed folic acid (5 mg) and baby asa (I started on cycle day 10). Dr said maybe heparin after a positive pregnancy result, but he isn't sure. We are trying to conceive again this month and I am confused about my chances for a sucessful preg and if I should be insisting on the heparin. Also, how fast can the folic acid work to reduce my homocystine level?

   

• At Sun Oct 26, 09:30:00 AM 2008,  Anonymous said…

  I am a 32yrs old and I have one child from a previous relationship. I have recently remarried and we are having difficulty trying to have a baby. Last Nov. I found that I was pregnant. 8wks later I went to my first prenatal ultrasound and found that I had a blighted ovum which ended naturally. Couple months later I had the same occurence which ended sooner than the last. My doctor ran a bunch of lab work and found that I had the MTHFR mutation. My homocysteine levels came out normal and I was told to start 8mg baby aspirin and prenantal vitamins.(I was given a prescription for progesterone to take when I have a + preg test.) I have been on that for awhile and we tried again.Yesterday I started light bleeding 5 days before my period. Am I doing something wrong or should I take more folic acid? Should I seek a specialist? I am very frustrated!!Please help

   

• At Sun Oct 26, 08:47:00 PM 2008,  Cortney said…

  Hi Dr. Trofatter,
  
  I originally wrote on October 5th and greatly appreciate your response. (history of factor 5 leiden-hetero and mthfr-hetero). I went on Lovenox at 10 weeks at one shot of 40 per day, however I suffered a placental tear at 13 weeks and was bleeding heavily for two days (and clotting for five). Thank God, the baby is ok, but a week later, the tear is still present. My doctor wants me to go off the Lovenox permenantly and use a baby apirin for the remainder of the pregnancy, however I have heard that Lovenox can be beneficial when dealing with tears. What is your take on Lovenox after a tear and do you think I should do? I am concerned that with the Lovenox, the bleeding may start again, however without I run the risk of DVT or worse. Thank you so much for your feedback!!!

   

• At Thu Oct 30, 05:56:00 PM 2008,  Amy said…

  Hi Dr. Trofatter,
  
  I am Amy, 34 yo, and almost 17 weeks pregnant. My first pregnancy resulted in a healthy baby boy born at full term. I subsequently had losses at 10 weeks and at 23 weeks with my next 2 pregnancies. With the 23-week loss, there were no abnormalities with me or the baby, including clots, with the exception of a double heterozygote MTHFR mutation (1298 and 677) with normal homocysteine levels (all other labs were normal) for me. I have no history of any clots. With my current pregnancy, I have seen an MFM who stated that the literature doesn't support any treatment at all for this condition (I did take high dose folate from about weeks 6-10) and I am not considered high-risk and am followed like a routine pregnancy. However, after reading the posts on your website, ir sounds like there are an awful lot of women with the same mutations and similar histories as mine who are being treated much more aggressively.
  
  My questions are these:
  1) Am I at increased risk for fetal loss with this (or any) pregnancy? If so, is it more likely to be 2nd trimester or later?
  2) While heparin may be a little aggressive, in the face of a lack of evidence, is the risk of taking a baby ASA once daily small enough that the benefit would outweigh the risk?
  3) Is a second opinion warranted or is my MFM’s approach to this condition with my history a reasonable one?
  
  Thank you for your help and input.

   

• At Sun Nov 09, 08:01:00 AM 2008,  Anonymous said…

  Hi Doctor,
  
  My name is Lisa and I have been reading the postings on this site and been wondering about my son. I gave birth to a full term baby boy in Feb. 2008. He was diagnosed in utero with HLHS. I was given an amnio, that tested for the trisomies and a separate test for DiGeorge (I believe the deletions on Chomosome 22). The tests came back negative for all of those defects. He was born (otherwise perfect and healthy) and underwent the 1st Norwood procedure at 8 days of life. He came back out of surgery on ECMO, and passed away due to infection 15 days after birth. They did additional testing on his blood for all of the chomosomal issues and again, they came back negative.
  
  My perinatologist put me on 4 mg of folic acid daily and I took it prior to conception with the baby I am carrying now. I must have a fetal echocardiogram to rule out HLHS on this baby, but I was wondering:
  
  1.) what my chances are of having this happen again?
  
  2.) do you believe that the additional folic acid I have been taking will help my baby?
  
  3.) when should I stop taking the 4 mg of folic acid? I am currently 17 weeks pregnant.
  
  I would deeply appreciate your help with this. I am terrified to go through this again.
  
  Thank you so much!
  
  Lisa S.

   

• At Mon Nov 10, 10:51:00 AM 2008,  Anonymous said…

  Hi Dr. T. My name is Kathy and I posted to you earlier this year regarding my unexplained 28 week loss (after a normal full term birth 3 years ago) - after tons of testing, the only "abnormal" result that came up was my status as MTHFR compound heterozygous (with normal homocysteine). After seeing 3 different doctors and writing to you, the consensus was that MTHFR most likely had nothing to do with my loss (and there was no good theory as to what did). Well, I am now pregnant again (13 weeks 3 days) and so far all is well - 4 ultrasounds show a baby growing normally, and a normal nuchal translucency at 12 weeks (I'm having the integrated screen with blood work etc.). As far as treatment goes, I chose to just do high dose folic acid and baby aspirin (no heparin/lovenox, because no personal or family history of clotting or other clotting disorders). Since I wrote to you in the spring, I've continued my search for answers and I'm wondering about your opinion on one thing I found. I found a few articles on studies conducted by a doctor at Harvard (Uma Reddy) regarding stillbirth. In one article the conclusion was that abnormal uterine artery doppler flows were predictive of stillbirth. I've asked my doctor about this and he's never heard of it - I also inquired at the hospital that my doctor is affiliated with (in Michigan), and they don't do them. I'm wondering what you know about this, it seems it may still be in research stages and not really in practical application. Do you know of any doctors/hopsitals that perform this test? Do you have an opinion on the usefulness of this test? If a uterine artery doppler flow is abnormal, what's the treatment? I'm extremely fearful of this happening to me again, so I would be willing to investigate this (and maybe even travel to a facility that does uterine artery doppler flow studies) if it could help me. I myself question the relevance for me, as neither of my babies was growth restricted (both on the big side actually) and I had umbilical dopplers with each pregnancy that were normal - so whatever the problem was in my second pregnancy, it doesn't seem like a bloodflow one to me (but of course I'm not a doctor!). Thanks for your time.

   

• At Thu Nov 13, 05:12:00 PM 2008,  Nicole said…

  Hello, my name is Nicole. I have had five miscarriages. The first three were due to low levels of progesterone. With the last two, progesterone levels great, BUT my "water broke" early. The fourth pregnancy it broke at 17 weeks. With this fifth pregnancy at 17 1/2 weeks--had a cerclage at 12 1/2 weeks. Why is it breaking about the same time? Both times I was off my feet and resting..on complete bedrest. Another OBGYN that I consultd with says I need to be tested for Thrombophilia. The last two times when I delivered, they said my placenta begins to disenegrate before I can deliver it. What type of specialist do I need to see and what kind of test do I need done. Confused and longing for a child.

   

• At Sun Nov 16, 02:09:00 PM 2008,  Anonymous said…

  Dear Dr. Trofatter, I am "Anonymous Joanne" from earlier this summer...I wrote to you a few times regarding my interesting history. To remind you, I am a 41 year old incredibly healthy, athletic woman with three healthy children and no miscarriages. Three years ago I experienced an MI (for no apparent reason) and was found to have an ASD which was subsequently repaired with an Amplatzer Occluder device. One year ago, I was diagnosed with breast cancer and went through bilateral mastectomy surgery. (no chemo/radiation needed) Six days following my reconstruction surgery, I suffered two TIA's and, upon further exam, was found to have previous stroke damage. On a hunch, I was then found to be homozygous for MTHFR, with normal homocystine levels. My doctors (and there are several) find no link between any of my calamities, including my clotting disorder. A clot was never found with my heart attack nor my TIA's. I recently underwent surgery again, including a laparoscopy, and (surprise) was found to have liver scarring. (I am injecting myself with Lovenox daily to prevent any possible clots) I have never consumed an alcoholic drink, nor abused Tylenol or any other drug....I try to be as natural and healthy as possible. I have read that the liver controls clotting, and wonder if perhaps the MTHFR disorder could have any bearing on my unexplained scarred liver? It appears to not be recent, with no nodules or fatty changes. I will be getting some labs done just to make sure everything is normal, then the subject will be dropped. In view of my unusual health history, I am seeking your opinion. Thank you so very much for willingly helping so many of us.

   

• At Sat Nov 22, 05:54:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sarah Oct 24: Forgive the delay in my response, but I JUST received your comment in my mailbox yesterday. Many factors contribute to elevated homocysteine levels and some of these may not have been present with your successful pregnancy. It is also possible that you have developed another problem such as the anticardiolipin antibodies that were also not present before. Although the folic acid can work within weeks to improve your honocysteine levels, my suggestion would be to take the folic acid and a baby aspirin for 2 months before trying to conceive. If you would like, repeat the fasting homocysteine levels after that time. The heparin is a little more difficult question, but at 'prophylactic' dose levels, it is actually very safe. I would start that as soon as a pregnancy is confirmed in your case. Best wishes and please let us know how things turn out. Dr T

   

• At Sat Nov 22, 06:01:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 26: Pardon the delay in my response, but I just received your comment in my mailbox. I am not at all convinced the MTHFR polymorphism is the etiology of your early losses. The most common cause of sporadic losses in early pregnancy is chromosomal abnormalities. But with a new partner, rather than jumping into a regimen of empiric therapy, you might consider seeing a specialist in Reproductive Endocrinology. She/he will be in the best position to most efficiently evaluate you and your partner and institute a therapeutic regimen to help you get pregnant. Best wishes and thanks for writing. Dr T

   

• At Sat Nov 22, 06:06:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Cortney: There probably is no 'right answer' for your situation at this time. You are on a fairly low dose of Lovenox, but you could consider discontinuing for a couple of weeks to give the subchorionic hemorrhage an opportunity to resolve on its own. However, I am MORE leery of aspirin under these circumstances and would suggest stopping that entirely if you are already on it and not starting it as a substitue for the Lovenox. It will take awhile for you to 'dissolve' the clot, but it is important that you stop bleeding because continued hemorrhage dramatically increase your risk for infection and pregnancy loss or early delivery. Best wishes and let us know how things turn out. Dr T

   

• At Thu Nov 27, 10:06:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kathy Nov 10: Sorry for the delay in my response, but I have just now gotten your comment in my mailbox. I have found Doppler flow studies of the umbilical artery, middle cerebral artery and uterine arteries to be extremely useful in assessing abnormalities of placentation for the past 25 years. The umbilical artery resistance indices are valuable in assessing this from the fetal side and the uterine arteries from the maternal side. Resistance should drop in the uterine arteries starting as early as late first trimester and should certainly be present by 20 weeks. These changes can long precede abnormalities in fetal growth and if the Doppler flow studies are 'normal' fetal growth restriction and risk for stillbirth related to abnormalities of placentation decrease dramatically. I do NOT consider this to be 'experimental' BUT many insurance companies do and will not cover the costs. Unfortunately, if an abnormality in uterine artery (and umbilical artery) Dopplers is identified, there is nothing we can do to correct the situation, however, it does give us reason to monitor the baby more carefully and bail out of the pregnancy if the fetal condition so warrants, hopefully, before damage or an intrauterine fetal demise occurs. In your case, I am truly hoping your previous loss had nothing to do with an abnormality of placentation that would put you at risk for the same again. Best wishes to you for the rest of the pregnancy. Odds are in your favor that everything will turn out just fine - so let us know! Dr T

   

• At Thu Nov 27, 10:14:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Nicole: I am sorry for your losses. If you have not done so already, you should probably first see a specialist in reproductive endocrinology and infertility to evaluate your hormonal state and uterine cavity (to look for a congenital uterine abnormality or other condition such as Asherman's syndrome) and then a specialist in maternal-fetal medicine with an interest in cervical insufficiency (incompetence) to discuss the best approach to cerclage placement in view of your failure in that regard. By the way, thrombophilias are usually not associated with early premature rupture of membranes, however, certain connective tissue disorders can result in cervical incompetence as well. Of course, with your other very early losses, if you had D&C's, they could also be the cause of your cervical problems as well. Is there any family history of that in your case or other family members who have had recurrent pregnancy loss? Best wishes to you and thanks for reading! Dr T

   

• At Thu Nov 27, 10:20:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 16: I am sorry but do not have the answer, but I cannot help but believe that you have some sort of clotting disorder (thrombophilia) that we have just not been smart enough to figure out. Perhaps it is autoimmune in origin in view of the liver damage you have also suffered. Do you have any other problems that might be a hint of an underlying genetic metabolic defect or is there any similar history of such problems in your family? Please let me know if a diagnosis is ever established in your case and best wishes for the future. Dr T

   

• At Mon Dec 08, 07:21:00 PM 2008,  harcar64 said…

  Hi Dr. T -
  I am following up on an earlier post from 9/14/08. To refresh your memory, I am a 30-year old, healthy, active woman with a hx of 2 early m/c (prior to 7 weeks) with a full-term, healthy pregnancy in between the m/c.
  
  This summer, I was Dx heterozygous for the C677T and A1298C mutations. My non-fasting homocysteine level was 9.1. I am currently taking 1 po per day of Foltx and 81mg asa.
  
  You suggested that my m/c probably not have anything to do with MTHFR, and the research I have found supports this. I am pregnant again and would like to avoid Lovenox injections if possible (and prudent) - which is standard care for my ob practice.
  
  From research I have done and opinions I have gotten from you and another ob friend, I feel that anticoagulants are not necessary, but when I met with an ob at my practice recently, she gave me conflicting information. She tried to tell me that aside from m/c, MTHFR puts me at a very high risk for deep vein thrombosis during pregnancy, and that opting not to take Lovenox puts me at a great risk for this and in short, possible death. I am frustrated b/c her information contradicted what I have read, and even what my personal ob told me upon Dx. I felt like this doc was uninformed, and worse, just trying to scare me into taking Lovenox. When I tried to question her opinions, she acted like I didn't know what I was talking about. And when I asked about risks of taking Lovenox - both during pregnancy and labor - she said there were none. This can't be true.
  
  So, my questions for you are two-fold. First, what are the risks associated with taking Lovenox - especially during labor as it relates to hemmorhaging, etc? And more importantly, do you feel I am at an increased risk for DVT based on the MTHFR, the fact that I do not have any other risk factors or hx of blood clots, and my pregnancy history? I haven't been able to find research that supports what the doctor told me, but there is still a part of me that is scared of what could happen if I don't start the injections.
  
  I realize there are risks associated with pregnancy, regardless of Hx, risk factors, etc, but I would greatly appreciate your opinion as to how you would proceed from here. At this point, I've continued with the Folic Acid and Asa and have not started the injections, and I don't plan to. I am trying to gather information from as many resources as I can so that I can make an informed decision, and I greatly appreciate your help!
  
  Best, Carrie
  
  (I am currently 11 weeks along, heard the heartbeat at 8 weeks)

   

• At Sun Dec 14, 09:24:00 PM 2008,  Anonymous said…

  Hi, my name is Lori. I am 33 years old and just had my third m/c. Our first attempt to get pregnant (pregnant first month trying) produced a healthy child who is now 3 years old. We again got pregnant the first month trying for our second, but lost that pregnancy at 6.5 weeks. The next pregnancy took 8 months of trying and we lost it at 4.5 weeks. At that point, my husband and I were both tested and I was diagnosed with homozygous MTHFR C677T. I had been taking a prenatal vitamin with 1mg folic acid and my dr. added another 3 mg folic acid a day. After another 7 months we got pregnant again, but lost this one at 5 weeks. My ob is now referring me to an infertility dr. I don't believe that my homocysteine levels have ever been tested. Shouldn't they be? Is an infertility doctor the right fit for our situation? Should I be on additional B6 and B12, in addition to the folic acid? I appreciate your thoughts and recomendations?

   

• At Tue Dec 16, 07:16:00 AM 2008,  Atakan said…

  Dear Dr. Trofatter,
  
  Thank you so much for this wonderful opportunity, my wife had 2 miscarriages in the 1st trimester last year. After the tests we did for the reason of miscarriage, we learnt that my wife has heterozygous MTHFR A1298C and heterozygous beta fibrinogen mutations, while I have just heterozygous MTHFR A1298C.
  
  My wife is 5w 6days pregnant and we saw the heart beat recently. she has been taking coraspin for the past five months as well as folic acid (Folic plus). After hearing heart beat, our doctor recommended she take fraxiparine 0.3 ml injection every day. And we do so, along with coraspin and folic acid.
  
  My question is:
  1) is coraspin better than baby aspirin in our case,
  2) is having two heterozygous mutations really serious,
  3) what about beta fibrinogen, is heterozygous beta fibrinogen as important as MTHFR A1298C,
  4) so, are we on the right path?
  
  Thank you so much,
  Atakan

   

• At Wed Dec 17, 01:09:00 PM 2008,  Anonymous said…

  I am a 38 year-old woman recovering from an acute DVT following an MCL tear while skiing. I was diagnosed with the DVT 5 weeks after the trauma. By then, I had been on the pill for 5 months. I had never before been on the pill, but the Gyn indicated that it was necessary to dissolve various cysts on my ovaries. I just came out positive for one copy of the C677T mutation (heterozygous), and negative for the A1298C mutation. My homcysteine levels are within a normal range (5.60). I want to have children. Do I have a high risk of having a child with Down syndrome because of the aforementioned one copy of C677T mutation. Should I take folic acid before trying to get pregnant? If so, in what dosis? Would I have to be in Lovenox during pregnancy?

   

• At Wed Dec 17, 01:10:00 PM 2008,  Anonymous said…

  I am a 38 year-old woman recovering from an acute DVT following an MCL tear while skiing. I was diagnosed with the DVT 5 weeks after the trauma. By then, I had been on the pill for 5 months. I had never before been on the pill, but the Gyn indicated that it was necessary to dissolve various cysts on my ovaries. I just came out positive for one copy of the C677T mutation (heterozygous), and negative for the A1298C mutation. My homcysteine levels are within a normal range (5.60). I want to have children. Do I have a high risk of having a child with Down syndrome because of the aforementioned one copy of C677T mutation. Should I take folic acid before trying to get pregnant? If so, in what dosis? Would I have to be in Lovenox during pregnancy?

   

• At Wed Dec 17, 05:19:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Amy Oct 30: I am sorry for the long delay in my response, but I just received your comment in my mailbox this week. There are very mixed opinions about women in your situation. If you NEVER had had a pregnancy complication, and for some unrelated reason, your MTHFR polymorphisms were detected, I would offer you simply the extra folic acid. However, you have had an unexplained midtrimester loss and that puts you at increased risk for another pregnancy loss or complication simply because we do not know what happened to that baby and why. To say you are NOT at risk implies a bit of arrogance, because that suggests we have tested you for everything and are sure that the loss was simply a chance event. Believe me, NONE of us are that smart! I do not think I would have offered you heparin or lovenox either, but I will frequently use the low-dose aspirin in these circumstances - stopping it in third trimester once good fetal growth and Dopplers have been demonstrated - because it is inexpensive and relatively safe. Anyway, I hope things have going along fine. I don't think you need a second or third opinion about what has been recommended to you because it is certainly well within the standard of care and evidence-based medical approach to your situation and if you get two Maternal-Fetal Medicine docs in the same room, we will usually have six different opinions anyway! Best regards and let us know how things turn out if you happen to get back to this site! Dr T

   

• At Thu Jan 01, 04:26:00 PM 2009,  Allison said…

  Dr. Trofatter,
  
  Firstly, thank you for all the information and help you're offering to people with this diagnosis. It's so hard to find reliable information on MTHFR, outside of applying for med school!
  
  I was recently diagnosed as having a heterozygous MTHFR gene mutation. My family was tipped off to some complications after two maternal cousins, both pregnant, let it slip to their OBs that their mother and their aunt (my mother) had phlebitis during their pregnancies. My cousins got tested for clotting factors, and were found to have Prothrombic and MTHFR gene mutations, which then triggered the rest of the female family members to be tested for the same. Turns out that I'm the lucky one--while everyone else has both factors, I only have the MTHFR. The test did not say my homocystene levels were abnormal, so I'm assuming they are not. Perhaps there is another test for that, though...
  
  Now most of the people asking questions here are currently pregnant, or have been pregnant. The information you're giving is great for them at their childbearing stage, but I'm a little young for that yet. At 23, that's a very distant thought. My concern is whether I (or any person with MTHFR) can go on birth control pills, considering their clotting risks? If I do, would this (taking the pill with MTHFR factors) affect my fertility when I am finally ready to start a family? When I do reach that stage, will I have to start taking anti-coagulant shots, like Lovenox, or am I just supposed to take extra folic acid? Will I/Should I try to find an OBGYN that's a bit more specialized for high-risk patients? And (last annoying question, I promise) if this is a coagulation problem, I imagine it's something that should be known in medical emergencies, like car accidents or ER surgeries and the like--should I invest in a medical ID bracelet, noting that I have the MTHFR factor?
  
  Like I said, it's difficult finding information on this condition. Almost everything is aimed at pregnant women, which is pretty irrelevant to me right now. So I appreciate any and all advice you can give.
  
  Thank you very much,
  Allison

   

• At Mon Jan 19, 10:10:00 AM 2009,  Anonymous said…

  I have had 1 perfect birth 3 years ago then 2 miscarriages in the last year. homocystine & factor 5 came back normal but the mthfr came back with a small mutation. My Dr said I am fine & not to do anything special just take my pre natal vitamins. I am wondering if I should get the copies of my test & get a second opinion. Any thought or experience with just a MTHFR positive & nothing else?

   

• At Sat Jan 24, 03:18:00 PM 2009,  Anonymous said…

  hi, my name is ashley. i was just recently found out that i'm positive for mthfr heterozygous. my sister is pregnant and tested positive for it as well. i was born with congenital atrial septal defect. could the mthfr have contributed to this and should i be weary of any futher complications down the road?

   

• At Mon Jan 26, 05:20:00 PM 2009,  katie said…

  I am unsure of the type of mthfr I have but am meeting with my ob tomorow to clarify. I recently miscarried having a bleed in my uterus found at 6wks and no heart beat found at 10 and a half weeks.I want to know all risks involved before getting pregnant again, but my doc told me we are okay to try as soon as I have one period. I have also started taking folic and baby asprin. Is it a good idea to have that in your system for a certain period of time before getting pregnant again? having mthfr are you considered a high risk pregnancy? Do you recommend getting a second opinion or researching further with a genetic counselor and high risk doctor over an ob?

   

• At Tue Feb 10, 07:43:00 AM 2009,  kkb931 said…

  My daughters 24, 18 have both been diagnosed with MTHFR.
  the 24 year old has had 2 miscarriages prior to this information. She is a single carrier C677T. She also has polycystic syndrome, which if she is not on birth control will go months without a period. She has been placed on 1 MG Folic Acid per day. the 18 year old is a double carrier C677T and A1298C and is on 2 MG folic acid per day. If she is not on birth control pills she does not have a period for months.
  My question is:
  Is there a birth control pill that will regulate their cycles but will be ok to take with this MTHFR?
  The hemotoligist has said neither can be on any form of birthcontrol pills. Which will lead to more ovarian cysts.

   

• At Tue Feb 10, 09:35:00 AM 2009,  Anonymous said…

  Hi Dr. T. This is Kathy, I've posted to you numerous times over the past 10 months or so regarding my unexplained 28 week loss and my diagnosis of MTHFR compound heterozygous with normal homocysteine. I decided against lovenox and am doing just the folic acid and baby aspirin. I am just over 26 weeks into my new pregnancy and everything has been great so far. Today I had the frist of 3 serial growth ultrasounds and baby is measuring about a week ahead (estimated weight of 2 1/2 lbs - I am 26 weeks 2 days based on dates, of which I am certain). They did the doppler thing on the cord and said there were no issues, perfect. The one thing I am a little worried about is that my dr. said that my amniotic fluid is in the upper range of normal (I didn't think to ask him the measurement) - he didn't call it high though, and said he is not worried about it at all and would attribute it to the baby's slightly larger size (he basically said, bigger baby, more baby urine going into the amniotic fluid). My first born was 8 lbs 1 oz and 21 inches, and the daughter I lost was 2 1/2 lbs and 16 inches at 28 w 3d, so it seems to me I don't have small babies, so I am trying to be comforted by that and the fact that my dr. said he didn't think there's anything to be worried about. Should I be worried? I am scheduled to have another ultrasound at 30 and 34 weeks and to start NSTs at 32 weeks (all at MFM's recommendation based on consulatation after my loss). I had the 1 hr glucose test today - should get results later this week (did not have an issue with that in prior 2 pregnancies). Should I ask for something else? Can this be related to my MTHFR issue? Can you tell I take you seriously when you say "Let us know how things go"??? Thanks for your time.

   

• At Mon Feb 16, 08:36:00 AM 2009,  katie said…

  This is fascinating info. I am compound heterozygous for MTHFR, and I also carry the PAI 4g/5g mutation. This was discovered after I had several miscarriages in a row (I have since gone on to have several more). My (now very healthy) 11 year old son was born with pulmonary hypertension of the newborn, and ever since I learned of my MTHFR/PAI diagnosis in 2006, I have wondered whether his condition and my genetic thrombophilia issues could have been related. It looks like they might be.

   

• At Tue Feb 24, 01:49:00 PM 2009,  Morgan said…

  Hi,
  I am writing this on behalf of a friend who has lost two pregnancies- one at 24 weeks and one at 18 weeks. Both were Turner Syndrome babies. She and her husband are going for genetic counseling next week. After the first loss they were told that it was almost impossible to have a second Turner Syndrome pregnancy. She had to find a specialist who had ever seen someone with multiple Turner Syndrome pregnancies. Is it possible that MTHFR can be responsible for this? I'm not sure if she has been tested, but her situation is very unusual. Thank you for your help!

   

• At Wed Feb 25, 05:19:00 PM 2009,  Anonymous said…

  hi, my name is Kate. I am currently 22 weeks preganat. i had a consultation earlier today with a specialist reguarding my MTHFR mutation. i'm still really confused about this whole diagnosis. i was told not to worry because my homocysteine level is normal. so even though i have the mutation, it should not affect my baby in a negative way. is this true? should i see another specialist? my sister has the condition also. she did not find out until her 3rd pregnancy. in her 1st pregnancy she had a placental abruption at eight months and lost the baby. the 2nd pregnancy she was in the hospital on bedrest when she again had a placental abruption. but luckily they were able to save that baby. then when she was pregnant for the 3rd time they found that she had the MTHFR mutation-she cannot remember if her homocysteine level was normal or high. she began taking daily shots of heprin and had no problems with placental abruption. so i guess my main question is she i be worried about this happening to me even though my homocysteine level is normal???thank you,
  kate
  mase644321@aol.com

   

• At Thu Feb 26, 01:12:00 PM 2009,  Anonymous said…

  Hi I have MTHFR C677T AND A1298C and I take 1000mg of folic acid everyday and a baby aspirin. I was reading my college text book for nutrition and it says in there that "many drugs including antacids and aspirin have been shown to interfere with the body's use of folate." I was wondering if you had any thoughts on that. I also use antacids occasionally for heartburn. Another question, I just found out i had this mthfr mutation about a year ago. Should I be getting followup blood work or anything done? like homocysteine, folic acid, vitamin B12 or anything like that? I haven't seen my doctor for a year. thank you.

   

• At Thu May 07, 06:14:00 AM 2009,  Anonymous said…

  Dear Doctor,
  I am in 8 weeks pregnancy. I am 31. I have a healthy son from my first pregnancy and after 4 miscarriages in a row (around 7-8 weeks). I was diagnosed with homozygous MTHFR mutation and hashimoto. I am on Clexane 0.4, Aspirin 100, folic acid 5 mg, Duphaston 3x1, Euthyrox 75 and Prednisolon 20mg. Two days ago, after orgasm, I had heavy bleeding even with clots. In hospital, shortly after bleeding stoped, on Ultrasound baby was fine. Doctor said that there is a small amount of blood in the uterus or gestational sac (?). Bleeding was severe but stop suddenly and from 2 days I have only minor brown discharge. I am worry about a baby. How this bleeding could affect the fetus? What about this blood inside uterus? Is it dangerous for the baby? Doctor told me to quit for some time Clexane and aspirin...but I did not, because for the first time a baby and gestational sac grows perfectly. I am afraid to stop taking these medications...

   

• At Wed Jun 03, 12:57:00 PM 2009,  Mrs. Jessica Ritter :) said…

  Hello, my name is Jessica and my sister who has one son that she conceived when she was 25, and then struggled for 8 years after two miscarriages for a second child told me yesterday that doctors found that she has A1298c genetic mutation that is at the root of all of her bleeding issues and miscarriages. We both share a father, but have different mothers, and I wondered what the likelihood is of me having this genetic mutation as well. Also, can the effects vary per person, like if I am in better shape or take specific vitamins before pg. Also, she said that it gets worse with time... that I should get pregnant earlier (I am 23) so that I won't have as many complications, is that true? My husband and I would really like to have children, but I heard that with this mutation a woman is 7x more likely to miscarry and her risk of death is much much greater. Are any of these things true??? Thanks so much, Jessica

   

• At Tue Jun 16, 08:49:00 AM 2009,  Anonymous said…

  I am 24 years old with history of PE when I was 19. No clotting factor was found at that time. I recently found out I was pregnant and was put on lovenox at 10 weeks, and had begun prenatal vitamins around the same time due to morning sickness. I also had a normal ultrasound and heard the heartbeat at that time. Last week I found out I am MTHFR C677T homozygous. What can I do at this point (13 weeks) to ensure my baby's health? Will extra folic acid supplements make any difference at this point? What risk am I running for heart or neural tube defects? My next doctor's appointment is in 2 weeks and I wanted a few answers now.

   

• At Sun Jun 21, 04:53:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 16: The lovenox will help prevent clotting problems but a more 'specific' treatment for MTHFR polymorpphisms is folic acid. I usually place my patients on 4 mg daily. Did you have a fasting homocysteine level checked? You will probably do just fine. Please let us know how things turn out.
  Dr T

   

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