title: 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.affiliation: Department of Reproductive Medicine, University of California, San Diego, La Jolla, CA, USA. adhull@usdc.edu
authors.forename: A D
authors.initials: AD
authors.lastname: Hull
authors.forename: G
authors.initials: G
authors.lastname: James
authors.forename: D H
authors.initials: DH
authors.lastname: Pretorius
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000025:Abortion, Eugenic; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D009333:Neck / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods