Prenatal screening and diagnosis of neural tube defects

Prenat Diagn. 2009 Apr;29(4):402-11. doi: 10.1002/pd.2250.

Abstract

This review article discusses prenatal screening and diagnosis of neural tube defects (NTD). High detection rates occur in countries operating ultrasound screening programmes because classical two-dimensional ultrasound cranial signs (lemon shaped head, banana cerebellum, ventriculomegaly) are important diagnostic clues to the presence of spina bifida. Careful evaluation of both the spine and a search for other abnormalities is warranted. Important prognostic information for spina bifida relates to the lesion level, with a "watershed" between L3 and L4 marking a very high chance of being wheelchair bound with the higher lesions. Three-dimensional ultrasound using multiplanar views can achieve diagnostic accuracy within one vertebral body in around 80% of patients. There are high rates of pregnancy termination for spina bifida in many European countries, but the use of new imagining techniques allow better prediction of outcome, and consequently a refinement of prenatal counselling.

Publication types

  • Review

MeSH terms

  • Anencephaly / diagnostic imaging
  • Anencephaly / embryology
  • Chromosome Aberrations
  • Counseling
  • Encephalocele / diagnostic imaging
  • Encephalocele / embryology
  • Female
  • Humans
  • Meningocele / diagnostic imaging
  • Meningocele / embryology
  • Neural Tube Defects / diagnosis*
  • Neural Tube Defects / diagnostic imaging
  • Neural Tube Defects / embryology
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Prognosis
  • Spinal Dysraphism / diagnostic imaging
  • Spinal Dysraphism / embryology
  • Ultrasonography, Prenatal / methods
  • alpha-Fetoproteins / analysis

Substances

  • alpha-Fetoproteins