Prenatal screening and diagnosis of neural tube defects

Martin Cameron, Paul Moran
Prenatal Diagnosis 2009, 29 (4): 402-11
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.

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