Volume 29, Issue 4 p. 402-411
Review

Prenatal screening and diagnosis of neural tube defects

Martin Cameron

Martin Cameron

Fetal Medicine Department, Leazes Wing, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1 4LP, UK

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Paul Moran

Corresponding Author

Paul Moran

Fetal Medicine Department, Leazes Wing, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1 4LP, UK

Fetal Medicine Department, Leazes Wing, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1 4LP, UK.Search for more papers by this author
First published: 19 March 2009
Citations: 151

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. Copyright © 2009 John Wiley & Sons, Ltd.