Down's syndrome, cardiac anomalies, and nuchal translucency

BMJ 1999;318:70-71 ( 9 January )

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Down's syndrome, cardiac anomalies, and nuchal translucency

Fetal heart failure might link nuchal translucency and Down's syndrome

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Since the first report on the ability of nuchal translucency measurement to detect pregnancies affected by Down's syndromeby Nicolaides et al in 1994¹ over 20 studies have been publishedon the issue. Despite all these efforts, however, the exact performanceof nuchal translucency measurement in detecting Down's syndromeis still unknown. Recent large studies in low risk populationshave evaluated the performance of nuchal translucency measurementin detecting Down's syndrome, but the result of the nuchal translucencymeasurement had already been used in the risk assessment (by identifyingcases of Down's syndrome that would never have reached term).In these studies fetuses affected by Down's syndrome which havean increased nuchal translucency are thus more likely to be detectedthan those affected fetuses with a normal nuchal translucency $---$ andthis may inflate the reported detection rate of nuchal translucencymeasurement.^2-4 Even the two largest studies reported detectionrates as different . . . [Full text of this article]

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Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study: Jon Hyett, Marc Perdu, Gurleen Sharland, Rosalinde Snijders, and Kypros H Nicolaides
BMJ 1999 318: 81-85. [Abstract] [Full Text] [PDF]

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Souter, V., Nyberg, D., Siebert, J. R., Gonzales, A., Luthardt, F., Hannibal, M., Glass, I. (2002). Upper Limb Phocomelia Associated With Increased Nuchal Translucency in a Monochorionic Twin Pregnancy. J Ultrasound Med 21: 355-360 [Full text]
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