产前诊断的Callosum体 Agenesis:识别潜在的遗传病因
Xing Wei1, Luyao Cai1, Luye Zhang1
1Department of Fetal Medicine and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.
下一代测序,包括外体测序 (ES),有效地识别了大脑体 (ACC) 发生的遗传原因. 单独的ACC与正常的ES结果与婴儿的神经发育结果有关.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 神经发育障碍 神经发育障碍
背景情况:
- 体 (ACC) 的催生是一种具有多种遗传基础的先天性脑形.
- 准确的遗传诊断对于产前ACC病例的预后和遗传咨询至关重要.
研究的目的:
- 评估下一代测序技术在识别产前ACC的遗传病因方面的实用性.
- 评估遗传发现,ACC类型 (隔离与非隔离) 和怀孕结果之间的关系.
主要方法:
- 对11.8%的产前ACC病例 (2016年1月至2022年12月) 进行羊水切片的回顾性分析.
- 使用染色体微阵列分析 (CMA) 和外体序列测序 (ES) 进行遗传分析.
- 根据超声检测结果将ACC分类为孤立或非孤立;追踪妊娠和神经发育结果.
主要成果:
- 在11.8%的病例中,CMA发现了致病性拷贝数变异,主要是非隔离的ACC.
- 外基组测序 (ES) 在46.2%的正常CMA病例中发现了致病基因变异,非隔离ACC的检测率高 (54.5%) 比隔离ACC (40%).
- 在活产儿中 (12),91.7%显示神经发育正常,特别是那些具有孤立的ACC和正常ES结果的人.
结论:
- 产前外体序列测定对于确定分离和非分离的ACC的遗传原因非常有效.
- 孤立的ACC病例与正常的外体序列测序结果与有利的神经发育结果有关.
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