MTHFR Mutations and Congenital Heart Defects

106 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!

   

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