皮层发育的形:胎儿成像和遗传学
Lin-Lin Wang1,2, Ping-Shan Pan2, Hui Ma2
1Department of Obstetrics and Gynecology, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China.
Molecular genetics & genomic medicine
|April 18, 2024
概括
基因检测,特别是全外体测序 (WES),对于诊断胎儿皮层发育形 (MCD) 至关重要. 这有助于评估未来怀孕的预后和复发风险.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 医疗成像医学成像
背景情况:
- 皮层发育形 (MCD) 是一种先天性大脑异常,导致和认知障碍.
- 遗传因素在MCD病因学中很重要,目前没有治愈方法.
- 在子宫内诊断MCD越来越有可能通过胎儿MRI和超声波.
研究的目的:
- 评估MCD胎儿基因检测的诊断产量.
- 为了将神经成像发现与遗传变异相关联.
主要方法:
- 通过超声波或MRI诊断的32例胎儿MCD病例的回顾性审查.
- 分析包括染色体型化,SNP数组/CNV测序和全外体测序 (WES).
主要成果:
- 基因检测在68.8% (22/32) 的胎儿中发现了致病性拷贝数变异 (CNV) 或单核酸变异 (SNV).
- 具体来说,检测到3种致病性CNV (9.4%) 和19种SNV (59.4%).
结论:
- 建议进行基因检测,特别是WES,用于胎儿MCD诊断.
- 这便于对后续怀孕的结果评估,预后评估和复发风险预测.
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