Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Cécile CourdierJohn BoudjaraneValérie MalanChristine MutiBrian Sperelakis-BeedhamSylvie OdentSylvie JaillardChloé QuelinCédric Le CaignecOlivier PatatCharlotte DubucsSophie JuliaCaroline Schluth-BolardCarole GoumySylvia RedonJean-Baptiste GaillardMinh Tuan HuynhCéline DupontAnne-Claude TabetGuillaume CoganFrançois VialardRodolphe DardGuillaume JedraszakFlorence JobicMathilde LefebvreGeneviève QuenumSaori InaiMélanie RamaFanny SauvestreFrédéric CoatlevenJulie ThomasCaroline RooryckPublished in: Prenatal diagnosis (2023)
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.