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胎儿与先天性腹膜的遗传诊断和临床特征
Yan Lü1, Yi Yu1, Jiazhen Chang1
1Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Prenatal diagnosis
|December 16, 2024
概括
对于所有胎儿先天性隔膜 (CDH) 病例,建议进行基因检测,包括染色体微阵列分析 (CMA) 和全外体序列测序 (WES). 非隔离的CDH和家族史增加了诊断产量.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 遗传异常 是一种先天性异常.
背景情况:
- 先天性隔膜 (CDH) 是一种复杂的出生缺陷,具有多样化的遗传基础.
- 准确的遗传诊断对于CDH病例的预后和遗传咨询至关重要.
研究的目的:
- 为了研究CDH胎儿的染色体和单基异常.
- 评估染色体微阵列分析 (CMA) 和全外体序列测序 (WES) 的诊断疗效.
- 分析CDH中与遗传发现相关的临床特征.
主要方法:
- 分析了51例产前诊断的胎儿CDH病例的遗传和临床数据.
- 对所有患者进行了染色体微阵列分析 (CMA).
- 对于CMA没有产生诊断结果的病例,使用了全外体测序 (WES).
主要成果:
- 基因测试的整体诊断收益率为5.9% (3.9%来自CMA,2.0%来自WES).
- 与孤立的CDH (2.4%) 相比,非孤立的CDH病例的遗传诊断率显著更高 (22.2%) .
- CMA发现了染色体异常,而WES发现了一种与X链接CDH相关的新型PLS3突变,该突变发生在一家有复发病例的家庭中.
结论:
- 应该为所有被诊断患有CDH的胎儿提供遗传检测,包括CMA和WES.
- 特别建议WES用于非隔离的CDH或在CMA不确定的情况下,具有复发性CDH家族史的病例.
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