Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?. Issue 10 (22nd May 2017)

• Record Type: Journal Article
• Authors: Avagliano, Laura; Bulfamante, Gaetano Pietro; Massa, Valentina
• Other Names: Tuan Rocky S. guestEditor.
• Is Part Of: Birth defects research. Volume 109:Issue 10(2017)
• Page Start: 771
• Page End: 777
• Publication Date: 2017-05-22
• Subjects: pregnancy -- Cornelia de Lange syndrome -- ultrasound -- limb defects -- major malformations; Teratology -- Periodicals; Abnormalities, Human -- Periodicals; Congenital Abnormalities; Embryo, Mammalian -- abnormalities; Teratology; Abnormalities, Human; Teratology; Periodicals; Periodicals; 616.043
• DOI: 10.1002/bdr2.1045
• Languages: English
• ISSNs: 2472-1727

Abstract

Abstract : Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi‐organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk. We propose that, following a sequence of detailed scans and examinations, CdLS affected fetuses could be diagnosed in utero, when one or more conditions (among them, intrauterine growth restriction, limb defects, facial abnormalities, diaphragmatic hernia, and heart diseases) are detected, and possibly confirmed by specific molecular testing. Birth Defects Research 109:771–777, 2017. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.