用于诊断神经发育障碍和的基因测试:系统性审查和元分析
Yu-Ming Chang1,2, Yen-Ta Huang3, Pei-Chun Lai4,5
1Department of Genetic and Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Systematic reviews
|July 29, 2025
概括
下一代测序 (NGS) 方法,特别是全外体测序 (WES) 和全基因组测序 (WGS),在神经发育障碍 (NDD) 和方面的诊断产量与染色体微数组 (CMA) 相比显著更高. 这些先进的基因测试被推作为一线选择,特别是对于具有特定临床特征的患者.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 医学诊断 医学诊断 医学诊断
背景情况:
- 确定神经发育障碍 (NDD) 和的遗传原因对于治疗和遗传咨询至关重要.
- 染色体微阵列 (CMA) 和下一代测序 (NGS) 是关键的遗传测试方法.
研究的目的:
- 在患有NDD或的个体中确定CMA和各种NGS方法 (向测序,全外体测序,全基因组测序) 的诊断产量.
主要方法:
- 在PubMed,Embase和Cochrane图书馆进行系统的文献搜索,截至2024年8月31日.
- 包括包括10名被诊断患有NDD或的患者进行基因检测的研究.
- 随机效应元分析以汇集诊断产量百分比,根据测试模式,疾病亚型和临床特征进行子组分析.
主要成果:
- 在NDD (31.1%对14.8%) 和 (28.7%对13.3%) 队列中,NGS方法的诊断产量明显高于CMA.
- 整体外体序列测定 (WES) 对NDD (35.3%对23.2%) 和 (34.2%对24.0%) 产生了超过向基因组.
- 在最近的研究中观察到产量更高,并且在患有特殊特征的患者中观察到更高的产量,如失形症,综合性NDD,早期发作或耐药性和性脑病变.
结论:
- 与CMA相比,基于NGS的测试,特别是WES和WGS,为NDD和提供了较高的诊断产量.
- 这些发现支持使用NGS作为这些疾病的第一线遗传测试策略.
- 特定的患者子组,包括患有形态障碍或特定类型的患者,从综合基因检测中获益显著.
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