Overview on neural tube defects: From development to physical characteristics

Birth Defects Res. 2019 Nov 15;111(19):1455-1467. doi: 10.1002/bdr2.1380. Epub 2018 Nov 12.


Neural tube defects (NTDs) are the second most common congenital malformations in humans affecting the development of the central nervous system. Although NTD pathogenesis has not yet been fully elucidated, many risk factors, both genetic and environmental, have been extensively reported. Classically divided in two main sub-groups (open and closed defects) NTDs present extremely variable prognosis mainly depending on the site of the lesion. Herein, we review the literature on the histological and pathological features, epidemiology, prenatal diagnosis, and prognosis, based on the type of defect, with the aim of providing important information based on NTDs classification for clinicians and scientists.

Keywords: anencephaly; neural tube defects; spina bifida.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anencephaly / complications
  • Female
  • Humans
  • Neural Tube Defects / epidemiology*
  • Neural Tube Defects / genetics*
  • Neural Tube Defects / metabolism*
  • Pregnancy
  • Prenatal Diagnosis
  • Risk Factors