产前超声诊断和中断大动脉门的遗传分析
Jiaoyang Xie1, Hairui Sun1, Xiaoyan Hao1
1Echocardiography Medical Center, Beijing Anzhen Hospital, Capital Medical University, Maternal-Fetal Medicine Center in Fetal Heart Disease, Beijing Anzhen Hospital, Beijing, China.
Journal of clinical ultrasound : JCU
|December 16, 2025
概括
胎儿中断大动脉弧 (IAA) 始终与心脏形有关,通常与心脏外异常有关. 基因检测,包括拷贝数变异测序 (CNV-seq) 和整个外基因组测序 (WES),对于识别IAA胎儿中的这些遗传异常至关重要.
科学领域:
- 医学遗传学 医学遗传学
- 胎儿心脏病学 胎儿心脏病学
- 产前诊断 在产前诊断
背景情况:
- 间断大动脉门 (IAA) 是一种严重的先天性心脏缺陷,需要及时诊断.
- 了解IAA相关的形和遗传基础的范围对于产前咨询和管理至关重要.
研究的目的:
- 为了分类胎儿中断大动脉门 (IAA) 和与之相关的心内和心外形.
- 通过拷贝数变异测序 (CNV-seq) 和全外因子测序 (WES) 来研究IAA胎儿的遗传特征.
主要方法:
- 通过胎儿心声学对156名被诊断为IAA的胎儿进行了回顾性分析.
- 超声波图像的详细分析,以分类IAA类型和相关的形.
- 使用CNV-seq和WES对24例病例的遗传评估.
主要成果:
- 乙型IAA比A型IAA (33.3%) 更为普遍 (66.7%).
- 所有IAA病例都有相关的发育不良;75.0%有心内缺陷,25.0%有心内和心外缺陷.
- 基因检测在50.0%的病例中发现了异常,复制数变异 (CNV) 是最常见的发现 (50.0%).
结论:
- 胎儿IAA总是与心脏形有关,并且经常与心脏外异常有关.
- 在IAA胎儿中观察到基因异常,特别是CNV的高患病率.
- 对IAA的产前诊断需要进行全面的基因检测,包括CNV-seq和WES.
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