Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound

Jarcho-Levin syndrome (JLS) or spondylotharacic dysotosis causes early newb orn death from respiratory insufficiency. Prenatal diagnosis is possible us ing fetal ultrasound, but requires a high level of suspicion and definitive diagnosis may be delayed well into the second trimester. We present a case in which a combination of three-dimensional ultrasound and measurement of nuchal translucency thickness allowed successful detection of recurrent JLS at 12 weeks' gestation. Copyright (C) 2001 John Wiley si Sons, Ltd.