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

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Andrew J Copp1, Philip Stanier, Nicholas D E Greene

  • 1Neural Development Unit and Newlife Birth Defects Research Centre, UCL Institute of Child Health, London, UK. a.copp@ucl.ac.uk

The Lancet. Neurology
|June 25, 2013
PubMed

Insights

Neural tube defects (NTDs) are serious birth defects impacting pregnancies. In utero closure of open spina bifida can reduce neurological issues in children.

Area of Science:

  • Developmental biology
  • Genetics
  • Obstetrics

Background:

  • Neural tube defects (NTDs) affect approximately 1 in 1000 pregnancies globally.
  • Folic acid fortification is a key primary prevention strategy, though not universally implemented.
  • Genetic factors, particularly those influencing folate metabolism and cell polarity, are significant risk contributors.

Purpose of the Study:

  • To review current understanding of neural tube defect etiology and management.
  • To highlight advancements in clinical interventions, such as in utero spina bifida repair.
  • To discuss the genetic basis and developmental processes underlying NTDs.

Main Methods:

  • Literature review of studies on neural tube defects.
  • Analysis of genetic association studies.
  • Examination of developmental biology models, particularly mouse studies.

Main Results:

  • In utero closure of open spina bifida lesions shows promise in mitigating neurological deficits.
  • Genes involved in folate metabolism and planar cell polarity are strongly linked to NTD risk.
  • Mouse models differentiate NTDs based on neurulation stages: primary (anencephaly, open spina bifida) versus secondary (spinal dysraphism).

Conclusions:

  • Early intervention through in utero surgery can improve outcomes for open spina bifida.
  • Understanding genetic predispositions is crucial for risk assessment and prevention.
  • Clarifying the sequence of human neural tube closure events is essential for comprehending NTD pathogenesis.

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