Human neural tube defects: Developmental biology, epidemiology, and genetics

Eric R. Detrait, Timothy M. George, Heather C. Etchevers, John R. Gilbert, Michel Vekemans, Marcy C. Speer

Research output: Contribution to journalArticlepeer-review

262 Scopus citations


Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both genetic and environmental factors implicated. In this manuscript, we review the evidence for genetic etiology and for environmental influences, and we present current views on the developmental processes involved in human neural tube closure.

Original languageEnglish (US)
Pages (from-to)515-524
Number of pages10
JournalNeurotoxicology and Teratology
Issue number3
StatePublished - May 2005


  • Genetics
  • Neural tube defect
  • Teratology

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Neuroscience(all)
  • Toxicology


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