Neural tube defects: recent advances, unsolved questions, and controversies.

ABSTRACT: Neural tube defects are severe congenital malformations affecting around one in every 1000 pregnancies. An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention with folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in the UK. Genetic predisposition accounts for most of the risk of neural tube defects, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but studies of mouse models of neural tube defects show that anencephaly, open spina bifida, and craniorachischisis resu

SUBMITTER: Copp AJ 

PROVIDER: S-EPMC4023229 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature