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

Abstract

Jarcho-Levin syndrome (JLS) or spondylothoracic dysotosis causes early newborn death from respiratory insufficiency. Prenatal diagnosis is possible using 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.