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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Prenatal screening for serious congenital heart defects using nuchal translucency: a meta-analysis.

OBJECTIVES: To assess the performance of nuchal translucency (NT) measurements in screening for congenital heart defects (CHD) which would benefit from prenatal detection. METHODS: A literature search was conducted of studies published prior to August 2007 of CHD and NT measurements in fetuses without chromosome defects. From this, data on 159 pregnancies were obtained. Fetuses with CHD that would benefit from prenatal detection were identified and their NT measurements were compared with NT measurements in 29 776 unaffected fetuses without Down syndrome from the Serum Urine and Ultrasound Screening Study (SURUSS) trial to determine the screening performance of NT measurements. RESULTS: In all 67 fetuses with CHD were identified as potentially likely to benefit from prenatal detection. Using NT measurements, the estimated detection rate (DR) for a 5% false-positive rate (FPR) was 52% (95% CI: 42-71). CONCLUSION: Prenatal screening for CHD using NT measurements is likely to be effective, and given that NT measurement is already in place as part of prenatal screening for Down syndrome; this is an ideal time to set up demonstration projects to validate these results.[1]


  1. Prenatal screening for serious congenital heart defects using nuchal translucency: a meta-analysis. Wald, N.J., Morris, J.K., Walker, K., Simpson, J.M. Prenat. Diagn. (2008) [Pubmed]
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