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. 2023 Jun;43(6):734-745.
doi: 10.1002/pd.6340. Epub 2023 Mar 23.

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

Cécile Courdier  1 , John Boudjarane  2 , Valérie Malan  3 , Christine Muti  4 , Brian Sperelakis-Beedham  4 , Sylvie Odent  5 , Sylvie Jaillard  6 , Chloé Quelin  5 , Cédric Le Caignec  7 , Olivier Patat  7 , Charlotte Dubucs  7 , Sophie Julia  7 , Caroline Schluth-Bolard  8   9 , Carole Goumy  10 , Sylvia Redon  11 , Jean-Baptiste Gaillard  12 , Minh Tuan Huynh  13 , Céline Dupont  14 , Anne-Claude Tabet  14 , Guillaume Cogan  14 , François Vialard  15 , Rodolphe Dard  15 , Guillaume Jedraszak  16   17 , Florence Jobic  18 , Mathilde Lefebvre  19 , Geneviève Quenum  20 , Saori Inai  21 , Mélanie Rama  22 , Fanny Sauvestre  23 , Frédéric Coatleven  24 , Julie Thomas  25 , Caroline Rooryck  1   26
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Free article

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

Cécile Courdier et al. Prenat Diagn. 2023 Jun.
Free article

Abstract

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

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References

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