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.

Cornelia de Lange syndrome : to diagnose or not to diagnose in utero? / L. Avagliano, G.P. Bulfamante, V. Massa. - In: BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY. - ISSN 1542-0752. - 109:10(2017 Jun 01), pp. 771-777. [10.1002/bdr2.1045]

Cornelia de Lange syndrome : to diagnose or not to diagnose in utero?

L. Avagliano
Primo
;
G.P. Bulfamante
Secondo
;
V. Massa
Ultimo
2017

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.
Cornelia de Lange syndrome; limb defects; major malformations; pregnancy; ultrasound
Settore BIO/13 - Biologia Applicata
Settore MED/08 - Anatomia Patologica
Settore MED/40 - Ginecologia e Ostetricia
1-giu-2017
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/501110
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