Abstract：
BACKGROUND: There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome.
METHODS: In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021. We systematically reviewed clinical data from these cases, including indications for invasive testing, sonographic findings, QF-PCR results, chromosomal microarray analysis results, and pregnancy outcomes.
RESULTS: In this study, the common ultrasound features were ventricular septal defect (37.5%), intrauterine growth retardation (25%), and aortic coarctation (25%). Moreover, all patients were found to have a common deletion in the Williams-Beuren syndrome chromosome region at the 7q11.23 locus, which contained the elastin gene. Deletion sizes ranged from 1.42 to 2.07 Mb. Seven parents asked for termination of pregnancy, and one patient was lost to follow-up.
CONCLUSIONS: This study is the most extensive prenatal study using chromosomal microarray analysis technology for detailed molecular analysis of Williams-Beuren syndrome cases. We reported three cases combined with first-reported ultrasound manifestations. Case 1 was concomitant with multicystic dysplastic kidney and duodenal atresia combined with case 3. Notably, case 4 was combined with multiple cardiovascular malformations: Tetralogy of Fallot, right aortic arch, and supravalvar aortic stenosis. These manifestations expand the intrauterine ultrasound phenotype of Williams-Beuren syndrome in previous literature reports.
METHODS: In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021. We systematically reviewed clinical data from these cases, including indications for invasive testing, sonographic findings, QF-PCR results, chromosomal microarray analysis results, and pregnancy outcomes.
RESULTS: In this study, the common ultrasound features were ventricular septal defect (37.5%), intrauterine growth retardation (25%), and aortic coarctation (25%). Moreover, all patients were found to have a common deletion in the Williams-Beuren syndrome chromosome region at the 7q11.23 locus, which contained the elastin gene. Deletion sizes ranged from 1.42 to 2.07 Mb. Seven parents asked for termination of pregnancy, and one patient was lost to follow-up.
CONCLUSIONS: This study is the most extensive prenatal study using chromosomal microarray analysis technology for detailed molecular analysis of Williams-Beuren syndrome cases. We reported three cases combined with first-reported ultrasound manifestations. Case 1 was concomitant with multicystic dysplastic kidney and duodenal atresia combined with case 3. Notably, case 4 was combined with multiple cardiovascular malformations: Tetralogy of Fallot, right aortic arch, and supravalvar aortic stenosis. These manifestations expand the intrauterine ultrasound phenotype of Williams-Beuren syndrome in previous literature reports.
摘要：
背景：有一些文献报道Williams-Beuren综合征的产前超声表现。我们旨在通过超声和染色体微阵列分析探讨Williams-Beuren综合征的产前诊断，并描述该综合征的产前超声表现。
方法：在这项回顾性研究中，我们报告了2016年至2021年在我们的产前诊断中心诊断的8例Williams-Beuren综合征病例.我们系统地回顾了这些病例的临床数据，包括侵入性测试的适应症，超声检查结果，QF-PCR结果,染色体微阵列分析结果,和妊娠结局。
结果：在这项研究中，常见的超声特征是室间隔缺损（37.5%），宫内发育迟缓（25%），和主动脉缩窄(25%)。此外，发现所有患者在7q11.23位点的Williams-Beuren综合征染色体区域有一个共同的缺失，其中含有弹性蛋白基因。删除大小为1.42至2.07Mb。七位家长要求终止妊娠,一名患者失去随访。
结论：这项研究是使用染色体微阵列分析技术对Williams-Beuren综合征病例进行详细分子分析的最广泛的产前研究。我们报告了3例合并首次报告的超声表现。病例1伴有多囊性肾脏发育不良和十二指肠闭锁，并伴有病例3。值得注意的是,病例4合并多种心血管畸形：法洛四联症，右主动脉弓,主动脉瓣上狭窄.这些表现扩大了以往文献报道的Williams-Beuren综合征的宫内超声表型。
方法：在这项回顾性研究中，我们报告了2016年至2021年在我们的产前诊断中心诊断的8例Williams-Beuren综合征病例.我们系统地回顾了这些病例的临床数据，包括侵入性测试的适应症，超声检查结果，QF-PCR结果,染色体微阵列分析结果,和妊娠结局。
结果：在这项研究中，常见的超声特征是室间隔缺损（37.5%），宫内发育迟缓（25%），和主动脉缩窄(25%)。此外，发现所有患者在7q11.23位点的Williams-Beuren综合征染色体区域有一个共同的缺失，其中含有弹性蛋白基因。删除大小为1.42至2.07Mb。七位家长要求终止妊娠,一名患者失去随访。
结论：这项研究是使用染色体微阵列分析技术对Williams-Beuren综合征病例进行详细分子分析的最广泛的产前研究。我们报告了3例合并首次报告的超声表现。病例1伴有多囊性肾脏发育不良和十二指肠闭锁，并伴有病例3。值得注意的是,病例4合并多种心血管畸形：法洛四联症，右主动脉弓,主动脉瓣上狭窄.这些表现扩大了以往文献报道的Williams-Beuren综合征的宫内超声表型。
