COURDIER, Cécile; BOUDJARANE, John; MALAN, Valérie; MUTI, Christine; SPERELAKIS-BEEDHAM, Brian; ODENT, Sylvie; JAILLARD, Sylvie; QUELIN, Chloé; LE CAIGNEC, Cédric; PATAT, Olivier; DUBUCS, Charlotte; JULIA, Sophie; SCHLUTH-BOLARD, Caroline; GOUMY, Carole; REDON, Sylvia; GAILLARD, Jean-Baptiste; HUYNH, Minh Tuan; DUPONT, Céline; TABET, Anne-Claude; COGAN, Guillaume; VIALARD, François; DARD, Rodolphe; JEDRASZAK, Guillaume; JOBIC, Florence; LEFEBVRE, Mathilde; QUENUM, Geneviève; INAI, Saori; RAMA, Mélanie; SAUVESTRE, Fanny; COATLEVEN, Frédéric; THOMAS, Julie; ROORYCK, Caroline

doi:10.1002/pd.6340

COURDIER, Cécile
CHU de Bordeaux Pellegrin [Bordeaux]

BOUDJARANE, John

MALAN, Valérie

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Article de revue

Ce document a été publié dans

Prenatal Diagnosis. 2023-03-06, vol. 43, n° 6, p. 734-745

Résumé en anglais

We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes. We retrospectively recruited unrelated cases with 7q11.23 deletion, known as Williams-Beuren syndrome (WBS), or 7q11.23 duplication who had prenatal ultrasound findings. We collected laboratory and clinical data, fetal ultrasound, cardiac ultrasound and fetal autopsy reports from 18 prenatal diagnostic centers throughout France. 40 fetuses with WBS were collected and the most common features were intra-uterine growth retardation (IUGR) (70.0%, 28/40), cardiovascular defects (30.0%, 12/40), polyhydramnios (17.5%, 7/40) and protruding tongue (15.0%, 6/40). Fetal autopsy reports were available for 11 cases and were compared with ultrasound prenatal features. Four cases of fetuses with 7q11.23 microduplication were collected and prenatal ultrasound signs were variable and often isolated. This work strengthens the fact that 7q11.23 CNVs are associated with a broad spectrum of antenatal presentations. IUGR and cardiovascular defects were the most frequent ultrasound signs. By reporting the biggest series of antenatal WBS, we aim to better delineate distinctive signs in fetuses with 7q11.23 CNVs.< Réduire

Mots clés en anglais

Williams syndrome

7q11.23 microduplication

Prenatal diagnosis

URI

https://oskar-bordeaux.fr/handle/20.500.12278/188186

DOI

http://dx.doi.org/10.1002/pd.6340

Unités de recherche

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

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Résumé en anglais

Mots clés en anglais

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