Tsagkas Nikolaos, Katsanevakis Emmanouil, Karagioti Natalia, Perdikaris Panagiotis, Billis Michail
Obstetrics and Gynaecology, General Hospital of Agrinion, Agrinion, GRC.
Obstetrics and Gynaecology, United Lincolnshire Hospitals NHS Trust, Nottingham, GBR.
Cureus. 2023 Feb 10;15(2):e34841. doi: 10.7759/cureus.34841. eCollection 2023 Feb.
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.
在本报告中，我们描述了一例罕见的威廉斯-贝伦综合征（WBS）产前诊断病例。虽然WBS的产前诊断非常罕见，但在本例中，WBS在妊娠早期被诊断出来。关键因素是在妊娠17周时检测到胎儿手部肌张力减退和全身性胎儿肌张力减退。这通过分子核型分析，特别是对胎儿DNA进行阵列比较基因组杂交（arrayCGH），从而诊断出WBS。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获得的。受影响个体的临床肌张力减退是与WBS广泛相关的临床特征；然而，胎儿肌张力减退尚未被描述为WBS产前诊断的诊断标准。
