title: Neural tube defects.
abstract: Neural tube defects (NTDs), including spina bifida and anencephaly, are severe birth defects of the central nervous system that originate during embryonic development when the neural tube fails to close completely. Human NTDs are multifactorial, with contributions from both genetic and environmental factors. The genetic basis is not yet well understood, but several nongenetic risk factors have been identified as have possibilities for prevention by maternal folic acid supplementation. Mechanisms underlying neural tube closure and NTDs may be informed by experimental models, which have revealed numerous genes whose abnormal function causes NTDs and have provided details of critical cellular and morphological events whose regulation is essential for closure. Such models also provide an opportunity to investigate potential risk factors and to develop novel preventive therapies.
authors.affiliation: Newlife Birth Defects Research Center, Institute of Child Health, University College London, WC1N 1EH, United Kingdom; email: n.greene@ucl.ac.uk.
authors.forename: Nicholas D E
authors.initials: ND
authors.lastname: Greene
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Copp
mesh_terms: D000818:Animals; D005492:Folic Acid / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009436:Neural Tube Defects / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics / Q000503:physiopathology / Q000517:prevention & control; D054261:Neurulation / Q000502:physiology*; D012307:Risk Factors
chemical_list: D005492:Folic Acid
keywords: anencephaly; folic acid; genetics; spina bifida