Neural tube defects, folate-sensitive

Definition:

Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. It has been demonstrated that folate status is a significant determinant of NTD risk. The genetic studies have shown the relationships of folate-related genes. Maternal supplementation with folic acid is the most effective measure known to prevent NTDs.

References:

[1]. Anna E Beaudin, et al. Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression. Birth Defects Res C Embryo Today. 2007 Sep;81(3):183-203. [Content Brief]

[2]. Atsuo Kondo, et al. Neural tube defects: prevalence, etiology and prevention. Int J Urol. 2009 Jan;16(1):49-57. [Content Brief]

[3]. Marie-Therese Doolin, et al. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet. 2002 Nov;71(5):1222-6. [Content Brief]

[4]. Patrizia De Marco, et al. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. J Hum Genet. 2006;51(2):98-103. [Content Brief]

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