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.

PubMed
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.

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