MTHFR mutation

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Re : MTHFR mutation

Postby expert on call » Thu Mar 04, 2004 12:19 am

MTHFR mutations and the treatment of them are very controversial in pregnancy. Honestly we don't test for them very often because we simply don't know what sort of treatment is required once they are diagnosed. Heparin and aspirin have not been shown to help much, and the doses of folic acid, B6, and B12 probably won't help much either. I do find it encouraging that your homocysteine levels were normal in between pregnancies. It will likely mean that you have only a mild deficiency and that your chance of this happening again are similar to that of other women who develop preeclampsia.

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MTHFR mutation

Postby jennifermw » Sun Feb 01, 2004 09:25 am

Back in 2002 my first pregnancy was going exactly as planned until I developed preterm labor at 32 wks. At 34 wks I then developed severe atypical preclampsia and HELP Syndrome. I was taken by life flight for an emergency C-section since I live in a smaller community. Immediately prior to delivery I was distraught to find out that I had no amniotic fluid and my daughters kidneys had shut down. Luckily, after birth my daughter’s kidneys began functioning normally and she now a very healthy two year old.

Genetic testing has since revealed I am homozygous for the MTHFR mutation. I was initially told after delivery that I would be treated with low dose aspirin and Heparin therapy with any subsequent pregnancies.

My husband and I just met with the Maternal-Fetal Medicine group who delivered my daughter to discuss treatment options for another pregnancy. I was surprised to find that the specialist doesn’t feel that heparin, aspirin or even increased Folic Acid are necessary as long as my fasting homocysteine levels are normal prior to conception and during my first trimester. I at least thought they would recommend 4 or 5mg of Folic Acid.

With my first pregnancy I faithfully took a PNV several moths before conceiving, during pregnancy and for at least a year after birth since I was breast-feeding. I have no idea what my homocysteine levels were when I developed complications but several months after delivery my levels were within normal limits. I am a bit concerned about the lack of treatment recommended for a future pregnancy because the 1mg of Folic Acid that was in the PNV I was taking with my pregnancy obviously wasn’t enough.

I am considering seeking a second opinion but I have heard that newer research is suggesting these Heparin/aspirin therapy could cause more harm than good.

I wanted to know what your thoughts are regarding treatment.
Should I be on Heparin and Aspiring therapy?
What amount of Folic Acid, B12, B6 do you recommend?
If my Homocysteine levels are normal my first trimester would they most likey remain normal?

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