Service de Génétique médicale, CHU Bordeaux, Bordeaux, France.
Laboratoire de Cytogénétique, Département de Génétique Médicale, Hôpital Timone Enfants, AP-HM, Marseille, France.
Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23.
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.
我们旨在收集携带 7q11.23 拷贝数变异（CNV）的胎儿病例，并收集精确的临床数据，以拓宽对这些综合征产前特征的认识。
我们回顾性招募了具有 7q11.23 缺失（称为威廉姆斯-比伦综合征（WBS））或 7q11.23 重复的 7q11.23 缺失的无关病例，这些病例具有产前超声发现。我们从法国 18 个产前诊断中心收集了实验室和临床数据、胎儿超声、心脏超声和胎儿尸检报告。
收集了 40 例 WBS 胎儿，最常见的特征是宫内生长迟缓（IUGR）（70.0%，28/40）、心血管缺陷（30.0%，12/40）、羊水过多（17.5%，7/40）和伸舌（15.0%，6/40）。11 例胎儿尸检报告与产前超声特征进行了比较。收集了 4 例 7q11.23 微重复的胎儿，产前超声征象多种多样，且常孤立存在。
这项工作进一步证实了 7q11.23 CNVs 与广泛的产前表现有关。IUGR 和心血管缺陷是最常见的超声征象。通过报告最大的产前 WBS 系列，我们旨在更好地区分 7q11.23 CNVs 胎儿的独特征象。
