PDF(Pubmed)
Abstract：
In this report, we describe a rare case of prenatal diagnosis of Williams-Beuren syndrome (WBS). While the prenatal diagnosis of WBS is very rare, in the current case, WBS was diagnosed in early pregnancy. The key element was the detection of fetal hands hypotonia and generalized fetal hypotonia at 17 weeks of gestation. This led to the diagnosis of WBS by molecular karyotyping, specifically array comparative genomic hybridization (arrayCGH) of the fetal DNA. The genetic material was acquired by extraction from the fetal cells which are abundant in the amniotic fluid drawn by amniocentesis. Clinical hypotonia of the affected individuals is a clinical characteristic that is widely associated with WBS; however, fetal hypotonia has not been described as a diagnostic criterion for the prenatal diagnosis of WBS.
摘要：
在这份报告中,我们描述了一例罕见的Williams-Beuren综合征(WBS)产前诊断病例.虽然WBS的产前诊断非常罕见，在目前的情况下,WBS在妊娠早期被诊断。关键要素是在妊娠17周时检测到胎儿手张力低下和广泛性胎儿张力低下。这导致通过分子核型分析来诊断WBS，胎儿DNA的特异性阵列比较基因组杂交(arrayCGH)。遗传物质是通过从羊膜穿刺术抽取的羊水中丰富的胎儿细胞中提取而获得的。受影响个体的临床张力减退是广泛与WBS相关的临床特征；然而，胎儿低张力尚未被描述为WBS产前诊断的诊断标准。
