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索托斯综合征的产前诊断:整合染色体微阵列分析和外体序列测序

Xi Yang¹, Hongke Ding², Yiqun He²

¹Guangdong Provincial Research Center for Sports Assistive Device Design Engineering and Technology, Guangzhou Sport University, Guangzhou, China.

Prenatal diagnosis

|November 19, 2025

概括

产前诊断索托斯综合征是可能通过超声波和遗传检测,识别NSD1基因异常. 关键特征包括增加的鼻透光和中枢神经系统异常,导致妊娠终止.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
胎儿医学胎儿医学

背景情况:

索托斯综合征是一种遗传性疾病,其特点是过度生长和智力障碍.
产前识别索托斯综合征对于遗传咨询和管理至关重要.

研究的目的:

详细介绍产前超声波发现,遗传检测结果 (染色体微阵列分析和外体序列测序),以及索托斯综合征胎儿的妊娠结果.
为了指导对Sotos综合征风险的怀孕的遗传咨询.

主要方法:

在2016年1月至2025年3月期间诊断的13例Sotos综合征产前病例的回顾性分析.
超声检测结果,CMA和ES结果与现有文献进行比较.
对妊娠结果的审查,包括终止决定.

主要成果:

所有13个病例均出现了新的NSD1基因异常:通过CMA删除9个,通过ES (4个新型) 删除4个致病/可能致病变体.
产前的表型包括增加的鼻透光 (38%),中枢神经系统异常 (46%) 和生长异常 (15%).
其他观察到的异常包括多水,心脏和脏异常;所有怀孕都被终止.

结论:

索托斯综合征表现为非特异性的早期妊娠症状,除了增加的额透光.
中枢神经系统的异常和多水症在第二和第三季度变得明显.
通过综合超声波和遗传检测 (CMA/ES) 可以实现全面的产前诊断.

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