Williams–Beuren syndrome (WBS) is a well‐defined multisystem chromosomal disorder that is caused by a chromosome 7q11.23 region heterozygous deletion. We explored prenatal diagnosis of WBS by ultrasound as well as multiple genetic methods to characterize the structural variants of WBS prenatally. Expanded noninvasive prenatal testing (NIPT‐plus) was elected as a regular prenatal advanced screen for risk assessments of fetal chromosomal aneuploidy and genome‐wide microdeletion/microduplication syndromes at the first trimester. At the second and three trimester, seven prenatal cases of WBS were evaluated for the indication of the invasive testing, the ultrasound features, cytogenetic, single‐nucleotide polymorphism array (SNP array), and fluorescent quantitative PCR (QF‐PCR) results. The NIPT‐plus results for seven fetuses were low risk. All cryptic aberrations were detected by the SNP array as karyotyping analyses were negative. Subsequently, QF‐PCR further confirmed the seven deletions. Combining our cases with 10 prenatal cases from the literature, the most common sonographic features were intrauterine growth retardation (82.35%, 14/17) and congenital cardiovascular abnormalities (58.82%, 10/17). The manifestations of cardiovascular defects mainly involve supravalvar aortic stenosis (40%, 4/10), ventricular septal defect (30%, 3/10), aortic coarctation (20%, 2/10), and peripheral pulmonary artery stenosis (20%, 2/10). To the best of our knowledge, this is the first largest prenatal study of WBS cases with detailed molecular analysis. Aortic coarctation combined with persistent left superior vena cava and right aortic arch cardiovascular defects were first reported in prenatal WBS cases by our study.

中文翻译：

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Williams-Beuren综合征胎儿宫内表型特征及文献复习

Williams-Beuren 综合征 (WBS) 是一种定义明确的多系统染色体疾病，由染色体 7q11.23 区域杂合缺失引起。我们通过超声以及多种遗传方法探索了 WBS 的产前诊断，以在产前表征 WBS 的结构变异。扩大无创产前检测 (NIPT-plus) 被选为常规产前高级筛查，用于在妊娠早期对胎儿染色体非整倍体和全基因组微缺失/微重复综合征进行风险评估。在孕中期和孕晚期，对 7 例产前 WBS 病例进行了侵入性检测指征、超声特征、细胞遗传学、单核苷酸多态性阵列（SNP 阵列）和荧光定量 PCR（QF-PCR）结果的评估。七个胎儿的 NIPT-plus 结果为低风险。SNP 阵列检测到所有隐性畸变，因为核型分析为阴性。随后，QF-PCR 进一步证实了七个缺失。结合文献中的 10 例产前病例，最常见的超声特征是宫内发育迟缓（82.35%，14/17）和先天性心血管异常（58.82%，10/17）。心血管缺损的表现主要有瓣上主动脉瓣狭窄（40%，4/10）、室间隔缺损（30%，3/10）、主动脉缩窄（20%、2/10）、外周肺动脉狭窄（20%） , 2/10)。据我们所知，这是第一次对 WBS 病例进行详细分子分析的最大型产前研究。