I am probably about 2-3 weeks pregnant right now (just took pregnancy test yesterday). My sister is currently pregnant with a baby who has Anencephaly. I was wondering if this increases my risk for having a baby with this or other birth defects and if there is anything I can do about it. Should I see a high risk OBGYN now? It seems like most doctors don't want to see you until 8-12 weeks. I just starting taking a prenatal pill with folic acid in it (started yesterday) along with another 400 mcg folic acid pill.
Anencephaly is part of a spectrum of disorders known as neural tube defects(NTDs). They occur during early embryonic development (around 4-5 weeks). There is thought to be a genetic link with NTDs. If you have a sibling with an affected child your risk is about 1%. Folic acid supplementation is generally recommended to help prevent NTDs. The amount of supplement you need is based on whether or not you have a family history of these defects. There is non-invasive testing that can be done in the first trimester that can determine whether or not you have an affected child. Since you are already pregnant I think a high risk referral would only be necessary if you had abnormal first trimester testing.
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