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.

• Authors: A D Hull, G James, D H Pretorius
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 21 Issue 5 Pg. 390-4 (May 2001) ISSN: 0197-3851 [Print] England
• PMID: 11360281 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2001 John Wiley & Sons, Ltd.

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Abortion, Eugenic
• Adult
• Bone Diseases, Developmental (diagnostic imaging)
• Female
• Humans
• Imaging, Three-Dimensional
• Neck (abnormalities, diagnostic imaging)
• Pregnancy
• Pregnancy Trimester, First
• Ribs (abnormalities, diagnostic imaging)
• Spine (abnormalities, diagnostic imaging)
• Syndrome
• Ultrasonography, Prenatal (methods)