怀孕的结果和对胎儿腹腔巨病的遗传分析
Huimin Tao1,2,3, Lin Zhang4, Fangfang Tan1,2
1Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.
Frontiers in genetics
|October 5, 2023
概括
基因检测,包括型和拷贝数变异测序 (CNV-seq),可以改善胎儿腹腔巨 (VM) 的诊断. 这有助于评估神经发育风险,并指导怀孕结果.
科学领域:
- 产前诊断 在产前诊断
- 医学遗传学 医学遗传学
- 胎儿医学 胎儿医学
背景情况:
- 胎儿腹腔巨变 (VM) 与神经发育障碍有关,遗传因素起着重要作用.
- 了解VM的遗传基础对于准确的诊断和预后至关重要.
研究的目的:
- 调查胎儿VM的遗传病因及其与怀孕结果的关联.
- 分析不同VM子组的诊断产量:隔离 (IVM) 与非隔离 (NIVM),单边与双边,以及轻度至重度VM.
主要方法:
- 对131名VM胎儿的回顾性研究 (2017年4月至2022年8月).
- 遗传分析包括对羊水或带血样本的核型和副本数变异测序 (CNV-seq).
- 怀孕结果通过动态超声波,胎儿MRI和产后随访来评估.
主要成果:
- 在9.8%的病例中,型检测检测到染色体异常,而CNV-seq在15.7%的病例中检测到拷贝数变异 (CNV).
- 在非隔离,双边和严重VM亚组中观察到染色体异常和CNV的更高检测率.
- 多学科评估导致了45例妊娠终止和79例活产,并确定了产后结果.
结论:
- 结合型与CNV-seq显著提高胎儿VM的诊断率.
- 动态超声波和多学科团队的参与对于评估胎儿VM预后和管理怀孕结果至关重要.
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