QuestionHello,
I have had 2 miscarriages in the past year. After the second I got a repeat loss panel which showed I am heterozygous for the MTHFR mutation. My OBGYN said it was no big deal unless I was homo. Well I recently went to see an RE who tested my husband for the mutation. He was a carrier of 2 of the "less serious" strands. My RE wants to send us to a hematologist, but my OBGYN thinks it's ridiculous that the RE even tested my husband, saying it doesn't matter. I'm so confused as to the implication this could have on future pregnancies. Thanks for your help!
Answer
Dr. Ramirez
Hello,
I must apologize but I am not a genetic expert. However, my review of the literature suggests that these is a single gene defect and does not require testing of the husband, as this will make no difference. It major effect is a disorder called homocystinuria, which can cause major illness. That is probably the reasons for your referral to a hematologist. As you know, it is associated with pregnancy failure at different levels.
I think the best advice would be to see a genetics counselor to find out exactly what your risks are.
Sincerely,
Edward J. Ramirez, M.D., FACOG
Executive Medical Director
The Fertility and Gynecology Center
Monterey Bay IVF Program
www.montereybayivf.com
Monterey, California, U.S.A.
