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Periconceptional folate supplementation prevents neural tube defects and possibly congenital heart defects (CHD) as well. The search for candidate genes involved in the folate metabolism includes the methylenetetrahydrofolate reductase (MTHFR) 677C &gt; T polymorphism. We studied the association between MTHFR 677C &gt; T variants and CHD risk. The interaction with periconceptional folate supplementation was also investigated.

Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation