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Fruit of the Womb
Fruit of the Womb

Readers' Questions Related to MTHFR Polymorphisms

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Several recent comments on my post "MTHFR Mutations and Congenital Heart Defects" worthy of a general response for our readers:

Anonymous said Sept 02, 09:30:00 PM 2007...
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 antibody syndrome), lupus, and have had three strokes, 1 miscarriage, and I also almost lost her because of huge blood clots in the womb during pregnancy..My question is will she need to take foltex for the rest of her life (she is 18)... also, if she decided in the future to have children should she see a specialist?


Kenneth F. Trofatter, Jr., MD, PhD said...
To Anonymous Sept 2: Having the antiphospholipid antibody syndrome is MUCH different, and MUCH more serious 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 thought about getting pregnant.

Tell her to relax, and if you want a good 'second opinion' regarding her risks, find a local hematologist. She probably will not need to see a Maternal-Fetal Medicine specialist during pregnancy unless she develops complications. Women with single MTHFR polymorphisms do not need special treatment unless they have pregnancy problems that seem to be related to this. Thanks for reading!
Dr T


Phuong said Tue Sep 04, 08:06:00 PM 2007...
I had 2 miscarriages in 6 months (7 wks, and 8 weeks with 2 normal periods in between). I was told I was heterozygous C677T MTHFR...no elevated homocysteine level which I didn't test after fasting...doctor did not seem too concerned 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 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???



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 you 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. But, that therapy is purely empiric at this point and there is no evidence-based standard of care in that regard. Lovenox is VERY expensive! If you lost another pregnancy early, you could 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
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