MTHFR Polymorphisms and Schizophrenia?
Wednesday, October 03, 2007
Kenneth F. Trofatter, Jr., MD, PhD
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 zillion 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...
Kenneth F Trofatter, Jr., MD, PhD. Said…
Hi tj, thanks for writing. First of all, I doubt very much that your compound heterozygous state for those MTHFR polymorphisms caused your blood pressure problems and swelling after delivery of your baby girl. It sounds like you simply developed preeclampsia following delivery. About one-third of women will not show evidence of preeclampsia until after they have had their babies. In my reading of the current literature, there is at best a very weak, if any, association between MTHFR polymorphisms and preeclampsia. However, I would be curious to know about the other complications you had during your pregnancy, your gestational age at delivery, the size of your baby at delivery, and any problems the baby might have had after birth. I would also be very curious to see the results of the other laboratory tests done by your family physician. If you would like to send them to me privately, write through the ‘Heathline Feedback’ link and they will send them to my email address. Now, let me try to address some of your questions, because they are good ones…
1. Where can I find more information about MTHFR?
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that requires folic acid to convert homocysteine to methionine (an important amino acid) and when this does not occur, homocysteine can accumulate. This same biochemical pathway is also essential for the production of a substance called S-adenosyl methionine that is an essential intermediate required to add methyl (CH3) groups to nucleic acids (DNA; RNA), proteins, neurotransmitters, and phospholipids, a process that plays an important regulatory role in the biological functions of each of these.
Nutritional deficiencies of folic acid and/or mutations (polymorphisms) of the
MTHFR genes decrease the efficiency of these enzymatic pathways and increase the risk of accumulating homocysteine. Elevated levels of homocysteine and decreased production of methionine and S-adenosyl methionine may have toxicity for the developing embryo, resulting in increased risk for early pregnancy loss, congenital heart defects (particularly those involving the great vessels), and neural tube defects (e.g., spina bifida and anencephaly).
MTHFR polymorphisms are also included among the ‘genetic thrombophilias’ that place individuals at increased risk for developing vascular thrombosis (blood clots) and thromobembolic complications such as pulmonary emboli because they have either an increased propensity for developing clots or a decreased ability to break them down (fibrinolysis). The greatest risks for these complications are in individuals who not only have the gene mutation(s), but also have elevated homocysteine levels and/or other ‘risk factors’ such as smoking, use of estrogen-containing contraceptives, and other genetic or autoimmune thrombophilias.
As I have also discussed in another series of posts, there also appears to be an association between Down syndrome and MTHFR polymorphisms. Down syndrome results from the presence of 3 copies of chromosome 21. In 90-95% of cases, the extra chromosome is maternal in origin and results from a failure of normal chromosomal segregation (nondisjunction) during meiosis. “On the basis of evidence that abnormal folate and methyl metabolism can lead to DNA hypomethylation and abnormal chromosomal segregation,” James and colleagues (Am J Clin Nutr 1999;70:429-30) hypothesized in 1999 that young women with the most common MTHFR mutation (C677T) might be at greater risk for having a baby with Down syndrome than their peers who do not have the mutation. Indeed, the women with the C677T MTHFR mutation in this small study had a 2.6-fold higher risk for having a baby with Down syndrome than those who did not.
With the growing evidence of the importance of folic acid in the development of the fetal heart as well, and the high prevalence of the MTHFR gene mutation among women that may put their babies at risk, it appears we now have another good reason for insuring an adequate intake of folic acid, and may well be able to reduce the risk of specific, severe fetal heart malformations. One might also make the case for routine screening of women for elevated levels of homocysteine, prior to, or early in, pregnancy to identify those women who may be at increased risk, take steps to reduce their risk, and plan for proper evaluation of their babies during pregnancy.
2. I have several brothers, sisters and half brothers and sisters. Should they all get tested. Can this affect their children?
There is not an easy answer to this question. Many more individuals carry MTHFR polymorphisms than ever have complications related to the same. Indeed, the detection of your genetic state probably had nothing to do with the post-partum pregnancy complications you had as I have already pointed out. The most common gene mutations in MTHFR (C677T and A1298C) do not completely inactivate the gene, but reduce its efficiency in catalyzing the biochemical reactions of importance. We know that this deficiency can be overcome by supplementation with folic acid (hence ‘genetic predisposition’ and ‘environmental factors’) and greatly reduces the rates of neural tube defects and perhaps early pregnancy loss and congenital heart defects as well. I suppose, my suggestion for your family members would be to have their homocysteine levels checked, eat healthy foods containing folic acid and B vitamins, and for the women anticipating pregnancy, begin supplemental folic acid (1 to 4 mg daily) prior to conception and during early pregnancy to reduce the risk of embryotoxicity and congenital birth defects.
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?
I am honestly not aware of any, but I think you should discuss this with your pediatrician – ask about testing, diet, and folic acid supplementation. Ditto to my comments above when she starts thinking about having your grandchildren!
4. Is there a possibility that I could also have Factor V Leiden? I don't know if that is a separate test or not.
The test for Factor V Leiden (G1691A) is a separate test for another of the gene mutations considered to be a genetic thrombophilia. Others include the prothrombin (Factor II) mutation (G20210A), protein C, protein S, and antithrombin III deficiencies, plasminogen activator inhibitor (PAI)-1 (4G/4G), and excess Factor VIII production. Autoimmune thrombophilias are associated with antiphospholipid antibodies and lupus anticoagulants.
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.
This is a GREAT question and the answer appears to be YES! Although the world literature has shown some differences in results, a meta-analysis published by Gilbody and colleagues (Am J Epidemiol. 2007;165:1-13) demonstrated an association between the MTHFR C677T polymorphism and depression, schizophrenia, and bipolar disorder. The risk seems to be correlated with elevated homocysteine levels (Muntjewerff, et al., Mol Psychiatry. 2006;11:143-9). Male carriers of the MTHFR C677T and A1298C polymorphism may be at somewhat greater risk than women for schizophrenia (Sazci, et al., Prog Neuropsychopharmacol Biol Psychiatry. 2005;29:1113-23) and women may be at greater risk for bipolar disorders (Kempisty, et al., Eur Psychiatry. 2007;22:39-43).
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.
I am afraid I have to disagree with your family doctor on this point. Your diabetes probably is a greater risk factor than your MTHFR status although the two could certainly act together to increase your risk for pregnancy complications. If you supplement your diet with folic acid and tighten your diabetic control prior to conception, you should be able to minimize risks for both fetal and maternal problems during pregnancy. On the other hand, if your diabetes is NOT in good control during the critical stages of embryologic development, your risks will be increased for fetal abnormalities, especially neural tube defects and congenital heart defects that are, as we have pointed out earlier, also associated with MTHFR polymorphisms.
Well, tj, thank you again for writing and for the great questions. I hope I have answered most of them in a way that you feel they’ve been answered. Best wishes to you and your family.
Dr T
Labels: congenital heart defects, Down syndrome, folic acid, MTHFR, neural tube defects, recurrent pregnancy loss, schizophrenia, spina bifida
38 Comments:
At Fri Oct 12, 04:04:00 PM 2007,
Anonymous said…
I've had three miscarriages and an extensive workup that checks out anatomically, hormonally and genetically. But I just found out I am homozygous for MTHFR A1298C, which the lab report said is not a clotting risk "alone." I also have a moderately high ANA (for 15 years), my sed rate was mildly elevated after my most recent m/c, and I was found to have mildly elevated antibodies to beta2 glycoprotein1. My homocysteine and folate are normal. In the past, I’ve occasionally had a borderline normal/high MCH. I’ve also had peripheral neuropathies during my pregnancies and following each miscarriage, and on high-dose hormones when not pregnant. Nerve conduction studies and neurological bloodwork were normal, so the neurologist suspected a chemical imbalance and recommended antidepressants.
I have several questions:
Is the genetic MTHFR A1298C a clotting risk because I have two, not just one, copies of the mutation--am “homozygous"? Does the anti-beta2-glucoprotein1 compound that clotting risk? What would be the recommended treatment? Does the fact that I have two auto-antibodies suggest anything else?
Is treatment with additional folate, beyond my regular prenatal, recommended for the MTHFR A1298C mutation—although my blood folate and homocysteine levels are normal? Could those levels be normal but my tissues still not be getting enough folate, and my frequently borderline normal/high MCH be indicative of that? Also, does it matter if my homocysteine test wasn’t a fasting blood test? And finally, how long should I take the folate before trying to conceive again?
And could MTHFR, either independently or in concert with other possible clotting factors, cause neuropathies during and right after pregnancy, and with hormone use?
At Sat Oct 13, 11:16:00 AM 2007,
Anonymous said…
hi, I wrote yesterday about being homozygous for MTHFR A1298C and having anti-beta2 glycoprotein1.... I have one more question, related to homocysteine levels: if mine are normal, as I noted yesterday (and I'm on regular prenatals), does that mean I'm not at higher risk for clotting? I'm a little confused about from reading the literature. It sounds like some sources say that homocysteine is the culprit (so if it's "fixed" with supplementation, no need to worry about clotting) but other sources say that homocysteine may be an aftereffect (and cause its own damage) of damage already done. So...even if my homocysteine is "fixed" and I supplement at high levels, am I at greater risk for clots? THANKS!!!!
At Mon Nov 05, 03:33:00 PM 2007,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anonymous Oct 12 and 13: I apologize for not answering any of your questions to this point, but somehow, your posts got hidden away in my email box. In all honesty, your questions are so numerous and so interesting, I am not sure where to start. I will say this, I plan to devote a series at some time in the future to the significance of a antibodies to beta-2-glycoprotein-1. Let me just make a few comments here. You have a combination of factors that increase your risk for recurrent pregnancy loss (RPL), so there isn't anyone who can precisely answer your questions. The issue with you is more the RPL and should not be the "clotting risks" at this time. Any effect of the MTHFR A1298C polymorphism has a very good chance of being overcome with supplemental folic acid and, indeed, with the normal homocysteine levels, you are probably in good shape from that standpoint. My greater concern is that you have an 'imbalance' in your immune response as manifest by the ANA, anti-beta-2-glycoprotein-1 and who knows what else that we haven't been smart enough to look or screen for yet. In fact, one of my first thoughts was to ask if you had been screened for evidence of pernicious anemia (antibodies to gastric parietal cells that prevent the proper absorption of vitamin B12)? That can be associated with a macrocytic anemia and peripheral neuropathy and may be masked somewhat by adequate or supplemental folic acid intake. Or, you may have an as yet undiagonsed autoimmune disorder that is causing many of your symptoms. These can sometimes be exquisitely sensitive to the hormonal changes accompanying pregnancy. I guess I would like to know more about you and, specifically, what has been done to evaluate your RPL and neurologic status. How old are you? Weight? Menstrual history? Conception history? Do you have any living children? What medications are you on? Family history? What has been done, even empirically, to address your pregnancy losses? I appreciate your reading and the questions. Let me know if there is anything else I might be able to help with, and best wishes! Dr T
At Fri Nov 09, 02:44:00 PM 2007,
Anonymous said…
First, thank you for your answer! I'll definitely follow up on the pernicious anemia. To answer your other questions, menstrual history is totally normal and like clockwork, family history largely normal (some osteoarthritis and one aunt with Raynaud's, excellent fertility). I'm 105 lbs and have difficulty gaining weight, have no live children, am now in my late 30s, get pregnant fairly easily, had RE tests all normal for hormones and good for my age range, had 3 very early losses between ages 34-37, all 3 pregnancies caused neuropathies and athralgias from roughly implantation. After the 3rd loss that inflammation was also measured with an elevated sed rate. And after that loss, unlike my earlier losses, I've yet to return to "normal" physically. I'm only on prenatals, and in my 3rd pregnancy, baby aspirin from immediately prior to conception. Since I wrote to you last, I've also tested positive for antiphosphatidylethanolamine antibodies, which came up high (IgG over 40, IgM 30, and slightly high IgA). Retest of the anti-beta 2 glycoprotein 1 antibody came back normal--transient? At this point I'm wondering if pregnancy is even advisable, since it's not just a matter of losses, but also a seeming "trigger" of other issues. I want to be able to be a mother, not just carry a baby to term! Thanks for taking the time to read this and reply.
At Fri Nov 09, 02:59:00 PM 2007,
Anonymous said…
One question about the pernicious anemia: my folate and B12 levels in bloodwork were normal. Is that sufficient to say that I don't have an absorption problem, or could the prenatal be masking that, as you suggest? It's a little confusing! Thanks again!!!
At Thu Nov 29, 03:41:00 PM 2007,
Anonymous said…
I've had three early miscarriages and I tested positive for two copies of MTHFR A1298C and I have tested borderline positive for cardiolin anitibodies. I ave seen a hematologist who thought that my miscarriages would not have been caused by that. However a fertility Dr does think so... I am taking folic acid b6, b12, a low dose heparin from cycle day 5, low dose aspirin and 10 mg prednisone. I am feeling very anxious because of the disagreement between the two Dr's and I just wondered if the things I have tested positive for could have caused the mc's at 5-6 weeks. Or am I taking all of this medication for no reason?
Thanks Sarah
At Sun Dec 02, 08:45:00 AM 2007,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Sarah Nov 29: The honest answer is WE DON'T KNOW! That's the usual cause of disagreement between 'experts.' WE don't know if your losses are the result of the individual factors for which you have screened 'positive', the combination of the individual factors, or somethimg else entirely different (or combined with those other factors!) for which you have not yet been tested! The important fact is that you have lost 3 pregnancies very early and the 'empiric therapy' upon which you have been placed is relatively low risk to a developing baby. But, I would suggest, in the absence of any other history or 'rsik factors', if you successfully get through the first trimester on the current treatment regimen that your doctor consider getting you off the prednisone and the heparin by 20 weeks. By the way, are you seeing the REI doctor for any reasons other than your miscarriages? Best of luck to you, thanks for reading, and let us know how things turn out!
At Sun Dec 02, 06:34:00 PM 2007,
Anonymous said…
Thank you very much for your reply. I am just seeing the REI Dr. for the RPL. We are lucky in the fact that we can become pregnant very easily, I just can't seem to maintain them. I feel reassured that trying the meds might be worth it but that the Dr's are just trying it to see. Fingers crossed the meds will work!
Thanks again
Sarah
At Tue Dec 04, 11:54:00 AM 2007,
Anonymous said…
I had a stillborn daughter last December. In a effort to figure out what has gone wrong, my new OB doctor ordered tests and i have tested positive for mthfr. He has me on a prenatal vitamin and wants me to take a baby aspirin. I've been researching this and it seems that a lot of people in effort to concieve and while pregnant have been told to take more folic acid and vitamins b6 and b12...is this something i should look into?
At Tue Dec 11, 06:23:00 PM 2007,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Sarah Dec 2: We will ALL be crossing them for you! Let us know how things turn out.
Dr T
At Fri Dec 14, 12:41:00 PM 2007,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anonymous Dec 4: How far along were you when you lost your daughter and did you have any other complications at the time (blood pressure, diabetes, etc...)? Did your doctors have any idea why you lost your baby? Was she normally grown and did she have any abnormalities? Have you had any other pregnancies? Do you have any medical problems now? Regardless, the aspirin and extra folic acid are very safe. I would recommend beginning both before you even got pregnant again. Good luck and thank you for sharing with us! Dr T
At Tue Feb 05, 07:59:00 PM 2008,
Anonymous said…
I have had 3 miscarriages in the past year. First, tubal, Second did not get a fetal pulse and had D&C and Third I had a chromosome defect called Triplody. Since the last one I had numerous blood tests and found out I have MTHFR A1298C gene mutation but my homocestine levels are normal. I am taking 4mg of folic acid plus my prenatal each day in hopes my body will absorb some folate. Should I be worried about birth defects? Is there anything else I can do to help get my body healthy and help prevent any birth defects or my health?
At Tue Feb 12, 04:38:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Feb 5: Single MTHFR polymorphisms are unl;ikely causes of recurrent early pregnancy loss, but the 4 mg of folic acid should overcome the deleterious effects of that 'abnormal gene' and will substantially reduce your birth defects if that, indeed, is associated with your miscarriages. You have very different reasons for each of your losses (and no pattern consistent with the effects of a 'thrombophilia' - clotting tendency) so the odds are in your favor (if you don't get another ectopic) that you will do well in the future. Good luck and keep reading! Dr T
At Thu Feb 28, 08:34:00 PM 2008,
Anonymous said…
I just received the results of immune tests my RE ran to determine why I am having a problems with repeat chemical pregnancies. The tests came back positive for APA (all the ones ending in IGM), elevated NK cells and homozygous for MTHFR A1298C.
I've just been reading about MTHFR A1298C and its correlation with Down Syndrome. We have a son with Down Sydrome (our first and only child). I had him when I was 32 and conceived him when I was 31. The doctors have always told me our son's Down Syndrome was just a random, genetic "fluke" and not to blame myself, but today I learned I caused my son's Downs Syndrome. My husband is trying to make me feel better about all this and said the research showing a correlation between the MTHFR A1298C mutation and Down Syndrome is not conclusive and I shouldn't feel responsible. But I realize now that I am probably the cause of my son having Down Syndrome and I feel incredibly sad about it.
Since our son was born, we've been trying unsuccessfully for years to have another child. I feel like I've wasted all these years trying to have another child. I probably never stood a chance since my immune issues have most likely prevented any viable pregnancy. I really wish that more doctors would run immune tests for women who are trying to get pregnant. Not only have I made my son and husband suffer by not taking enough folic acid when I was pregnant with my son, I will probably never be able to have another child because time is probably no longer on my side.
I was wondering if you would be able to answer a few questions:
1. Do you believe the studies show that there is a correlation between MTHFR A1298C and Down Syndrome?
2. If there is a correlation, how does being homozygous for MTHFR A1298C cause Down Syndrome specifically? What is the defect in process that causes the presence of the extra 21st chromosome? Is there something I could have done differently other than taking much more folic acid? (I took a prenatal vitamin with 800 mg of folic acid).
3. My RE suggests extra folic acid, B6, B12, baby aspirin, Lovenox and IVIG. Is there anything else that I should consider in terms of treatment?
4. Would it make sense to have my son tested for the gene mutation?
Thank you again for your well written and very informative blog.
At Thu Feb 28, 08:37:00 PM 2008,
Anonymous said…
I am the mother of a son with Down Syndrome who just posted. In my previous post, I had meant to thank you for you very well written and informative blog. Thank you.
At Mon Mar 03, 10:02:00 AM 2008,
Anonymous said…
Hello, I am pregnant (17 weeks), have had two miscarriages, and am currently taking 2,400 mcg of folic acid/ 508 mcg B12/ and 52.5 mcg B6 as a result of my having compound Hetero MTHFR. I was reading about how too much of these vitamins can cause nerve damage and other problems. Is this something I need to reduce intake on? I go in for my level 2 ultrasound in two weeks and can maybe ask the periatologist there, don't know if I will see him, but I just got kind of scared. Also, am i at a higher risk for something like stillbirth or any sort of disorders? Thank you for any time.
kristy
At Tue Mar 04, 07:19:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anonymous Feb 28: First let's get something straight. You did not CAUSE your baby to have Down syndrome. MTHFR polymorphisms do not lead to trisomy 21, but for some inexplicable reason, they might help those babies survive for reasons I have presented in my post on that subject. Those reasons are purely hypothetical at this point and there was nothing you could have done to prevent your genetic heritage. Your doctors recommendations for 'therapy' are sound at this point and that might decrease your risks for miscarrying. Your child does not need to be tested unless that's something you want to do. Please stop kicking yourself about things over which you have no control. Do you have a counselor you can see to help you deal with these issues? Hang in there and best wishes to you. Dr T
At Tue Mar 04, 07:23:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Kristy March 3: Please discuss with your perinatologist, but I do not think you are on excessive amounts of the vitamins. You are past the 'critical' stages of development that might benefit from the therapy you are on anyway and could probably safely reduce the dose of folic acid if you are really concerned about that. Good luck and let us now how things turn out! Dr T
At Thu Mar 06, 02:27:00 PM 2008,
Anonymous said…
thank you so much for responding to me. This was so nice. You are doing a great kindness. thank you with great sincereity. I did reduce my intake and feel much better now.
kristy
At Fri Mar 07, 04:34:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Kristy Mar 6: You are welcome Kristy and thank you for the kind words. If you remember, please let us know how things turn out! Dr T
At Fri Mar 14, 07:58:00 AM 2008,
Anonymous said…
I just found out that I have MTHFR-compound heterozygous, are they are precautions, other than 1 baby aspirin dialy, I should take prior to TTC? I have been seeing a RE and he doesn't seem to think so b/c my homocycsteine levels are normal
At Sun Mar 16, 06:38:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar14: I would suggest extra folic acid (2-5 mg/day) and a B-vitamin supplement for 2-3 months prior to conception and at least until the end of the first trimester.
Dr T
At Thu May 01, 10:11:00 AM 2008,
Joyce said…
I am 37 years old this year, and had two miscarriage (no live birth before). My doctor put me on 4 times a day Folgrad + prenetal vitamine since the first miscarriage (at 6 weeks). In April, I miscarried again at 5 weeks. She ordered a series test, all normal but MTHFR. I have C667T/A1298C mutation. Does this mean my previouse miscarriages are because of this mutation? How come the Folgard treatment is not working? Am I at a higher risk of having a child with birth defect? Any other treatment is needed for me? I am frustrated, and looking forward hearing from you.
Thanks.
At Thu May 01, 05:32:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Joyce May 1: There are so many possible reasons (age, uterine abnormalities, hormonal problems, etc.) you miscarried and they may or may not be related to your compound heterozygous state for the MTHFR polymorphisms. The level of folic acid you are taking should help to counter the deleterious effects of these mutations as well as reduce your risk for fetal abnormalities that accompany defects (neural tube and cardiovascular) in folic acid metabolism pathways. However, at your age, I would strongly suggest that you find a specialist in Reproductive Endocrinology and Infertility so that you can be evaluated and treated for your 'infertility' most efficiently. I would certainly advise this if you should have another early miscarriage. Good luck to you and thanks for writing. Dr T
At Thu Jun 05, 04:34:00 PM 2008,
Anonymous said…
I am a 32yr old and weigh around 140lbs. I’ve had 7 miscarriages and no living children. All of the miscarriages occurred in first trimester except for the 7th one which was second trimester miscarriage (20 weeks gestational age). Before my 7th pregnancy, as per my doctor’s suggestion I got lot of blood tests done, out of all only the following was positive, “POSITIVE FOR ONE COPY OF THE A1298C MUTATION”. My doctor has put me on progesterone for the first trimester and Lovenox starting from 6th week. I was on Progesterone for one of my previous pregnancies but ended up with miscarriage in 1st trimester. But when I was on Lovenox it helped me carry up to 20 weeks, and one day when I was sleeping my water broke and I went into labor. Even though the fetus was having a good heartbeat, my doctor’s said that the baby will not be able to survive since it is only 20 weeks. I don’t know whether taking the Lovenox injections helped me to carry till second trimester or not.
For my future pregnancies, my doctor suggested me to take Folic Acid 5mg and Baby aspirin preconception and after conception she mentioned that she will put me on Progesterone and Lovenox again. Could you please let me know if taking these medicines will help me with my future pregnancies, or, is there anything else which I need to do before conception?
Thanks,
Sandra
At Fri Jun 06, 07:32:00 AM 2008,
Anonymous said…
Hi, I am writing b/c my sister just received news that she has compound heterzygous mthfr of the C677T and the A1298C-- she has been prescribed folgard twice a day and baby aspirin daily. SHe has had 2 miscarriages in the past 2 years prior to knowing... I currently have a 10 month old and was curious is this is something I should get tested for? With the medication, will my sister be able to have a successful pregnancy? Also - is this carried on the mother's side or the father's side? Does my daughter need to get tested? One last question- While trying to learn more about this - I am very confused-- is this condition considered "thrombophilia"? Is it necessary to go to a hematologist to look deeper into this condition? Thanks so much!
Tori
At Sat Jun 07, 09:53:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Sandra: I am still not sure we know why you have lost your early pregnancies and then why you ruptured membranes at 20 weeks with your last one. A single copy of the A1298C mutation usually does not cause these problems. What other evaluation have you had. Did any of the pregnancies you lost have chromosomal studies done? Have you and your partner had chromosomal studies done. Has the inside of your uterus ever been evaluated by sonohysterogram or hysteroscopy? Have you had many D&C procedures because of your losses? Could you have lost this last baby because of an incompetent cervix? Regardless, in another pregnancy, I would at least start with the medications you were on before and follow your cervix carefully by ultrasound to look for evidence of cervical incompetence. Best of luc t you! Dr T
At Sat Jun 07, 09:59:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Tori: If your sister is a compound heterozygote for those MTHFR mutations, then she must have gotten one from one parent and the other from the other parent. You could be tested, but right now you don't have a really good reason to be. You have had a successful pregnancy and have no history of thromboembolic complications (although there are some doctors who would still suggest testing to decide whete you might be at increased risk for these, especially if you are going to use hormonal contraceptives). If we define a "thrombophilia" as a genetic or acquired condition that might increase your risk for thromboembolic complications, then I suppose it is. I would NOT go to a hematologist at this point, but would recommend the extra folic acid for both your sister and yourself if you decide to get pregnant again. Dr T
At Thu Jun 12, 11:48:00 AM 2008,
Anonymous said…
Thanks for your response Dr.T. Following are some of the tests which I have had: PROTEIN C ACTIVITY, LUPUS ANTICOAGULANT EVALUATION, CARDIOLIPIN AB SCRN, FACTOR V LEIDEN, FACTOR II MUTATION, UT, PROTEIN S ACTIVITY, METHYLENETETRAHYDROFOLATE REDUCTASE, ANTITHROMBIN III ACT, HOMOCYSTEINE, V ZOSTER VIR AB IGG, RUBELLA AB. And all these test results were normal. I don't remember few of the test names. I have had chromosomal analysis done for myself, my partner, as well as the fetuses, and the doctors said that even those results came out normal. I had Hysteroscopy done couple of times too, and those results were normal too. And I had D&Cs done for 5 of my pregnancies. For incompetent cervix, I don’t think the doctors have mentioned anything about it so far. Do I have to get it tested before I conceive or after I conceive? And also, when you said that I need to start the medications, please let me know if you meant Progesterone and Lovenox? Or, would you suggest me to take any other medications? Thanks, Sandra.
At Sun Jun 15, 01:59:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Sandra: Since we have absolutely no idea why you are losing these pregnancies (and because you have lost SO many), I would recommend the progesterone support starting in mid-luteal phase as well as the Lovenox and a baby aspirin starting no later than the time of your expected missed period (or as soon as a pregnancy is confirmed). Even if you ovulate normally,you might also consider 'ovulation induction' with clomid first and then letrazole if that isn't successful. Have you had thyroid stucies done recently? Assissted reproductive technologies such as IUI and IVF might alos improve your prospects. Best of luck and thanks for checking back with us. Dr T
At Wed Jun 18, 01:37:00 PM 2008,
Anonymous said…
Thanks for your suggestion! I’ll discuss with my doctor about the option to start progesterone during mid-luteal phase for my next pregnancy, and also will talk to her about ovulation induction. Regarding thyroid tests, it was done last year, and everything was normal. Thanks again, Sandra.
At Sat Jun 21, 06:17:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Sandra: Thank you for reading and best of luck! Let us know when something GOOD happens! Dr T
At Sat Jul 12, 02:11:00 PM 2008,
Kristy said…
Hi, I am 31 and have 3 children from my first three pregnancies. However I have had two misscariages in the past year now and recently found out that I am MTHFR A1298C after my second miscarriage. I lost both at about 12-13 weeks, and the first one had confirmed nuchal translucency. my doctor doesnt seem to think that the MTHFR would not be the cause of the recurrent pregnancy loss (which seems weird to me because from what I am reading it very well could) However, my husband is being tested to see if he is also a carrier of the mutation. Question #1-What effect would it have on this problem if he was? In the meantime My Ob has started me on 4MG of folic acid and B6 &B12 suppliments. Im just wondering if anyone has has experience with this and could tell me if this seems like the right course of treatment as there are so many "unknowns" about MTHFR? Is there anything else I could be doing? There is a family history on my mothers side or pernicious anemia and wonder if that could also be a problem for me as I have MTHFR?
At Tue Jul 15, 08:51:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Kristy: The most common causes for early pregnancy losses (especially in someone who has previously had healthy pregnancies) are chromosomal abnormalities. The older you get, the more likely that is the cause. The treatment your doctor has recommended should overcome any contribution of the MTHFR polymorphism. With the family history of pernicious anemia, you could be screened for that and other autoimmune conditions if that has not been done already (e.g.,thyroid disease, antiphospholipid antibodies, lupus anticoagulant). If you miscarry again, have chromosomal studies done on the products of conception. If they are normal, then I would suggest you have a sonohysterogram done to evaluate your uterine cavity for any abnormalities that may have developed since you previously had your babies or as a consequence of your miscarriages. Best wishes and thanks for writing. Dr T
At Thu Aug 07, 01:38:00 PM 2008,
carmen said…
I just had a nephew who was tested for MTHFR,at the age of 10, he had many strokes, leaving him with right side paralisis. At this time, 2 of my daughters had been tested for the disorder, the first one has 1 recessive gene the other one, I believe has 2 genetic mutations of the disorder. My second daughter is pregnant, 5 months along, her Dr. started treating her with a blood thinner, one shot daily and of course prescription with the right amounts of Folic Acid, Vit 6 and Vit 12 . I was just wondering regarding the blood thinners, is this treatment safe? do you have any other suggestions?
Carmen
At Mon Sep 29, 02:04:00 PM 2008,
Anonymous said…
Hi! I am 27 years old, 5'8'' and 120 lbs. I have had a total of five pregnancies. My first one was uncomplicated pregnancy and vaginal delivery. My second pregnancy ended in a miscarriage at nine weeks (cause unknown). My third pregnancy I was diagnosed with oligoshydramnios during a routine ultrasound at 18 weeks. At 19 weeks I was hospitalized for placental abruption. I was hospitalized until week 27 when the baby's heartbeat dropped and had a crash cesarean. The baby died the next day. My fourth pregnancy was uncomplicated and resulted in a healthy boy. My fifth pregnancy ended in a miscarriage at 8 weeks. I had a D&C done and I and the products of conception were tested. The test resulted for the baby tested negative for chromosomal abnormalities. My blood work showed that I have the MTHFR gene mutation. My OB/GYN has referred me to a hematologist, for which I am waiting for an appointment. I was wondering if the MTHFR gene mutation could explain why I have some healthy/uncomplicated pregnancies, some miscarriages and the pregnancy with placental abruption. I would greatly appreciate your response. Thank you so much for the work that you do. Your research and understanding of this subject brings so much comfort and medical help to so many.
At Sun Oct 05, 05:51:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Carmen Aug 7: I am sorry, but I missed your comment until now. The simple answer is that most of the "blood thinners" we use in pregnancy (presumably heparin or a low-molecular weight heparin in your daughter's case) are very safe if not used to execss (and that's why we monitor patients on these drugs). The drugs do not cross the placenta to the baby. Hopefully, your daughter will do just fine. Thanks for writing and I apologize for my delayed response. Dr T
At Sun Oct 05, 05:54:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Sept 29: If you have only one copy of a MTHFR mutation, it is unlikely that this has been the cuase of your pregnancy complications. Even if you have two, most of the effects can be overcome by supplemental folic acid and B-complex vitamins. The best thing in yoour favor is that you have had some UNCOMPLICATED pregnancies s there are probably other explanations for the troubles you have had. Good luck and thanks for writing! Dr T
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