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Reply to "s/o Midline birth defects - am I to blame?"
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[quote=Anonymous]Some women, including me, have a very common genetic mutation (MTHFR) that causes us to metabolize folate inefficiently or not at all. This can be detected through a simple blood test. I have one copy of the mutated gene, so I take about 5000 IUs of folic acid per day while ttc and during pregnancy (instead of the normally-recommended 400 ius). The idea is that megaloading the dose allows my body will get enough despite the inefficient metabolism. Some people have two mutated copies of the gene and need to take a post-metabolized form of folic acid. I learned of this mutation as part of a post-miscarriage workup, mostly because my family's heart health history put me at high risk for clotting disorders that could affect pregnancy. I would never have known otherwise and would have stuck with the standard dose of folic acid, which may not have been adequate for me. OP, if you are planning to conceive again, you might want to ask your OB or primary care doctor to test you for this. Having the mutation certainly does not cause neural tube defects. Most people who have it don't know, don't do anything special, and still give birth to children with no issues. However, it is one of those things that does seem to heighten the risk of spina bifida and other neural tube defects, and it is easy to test for and easy to treat. [/quote]
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