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在临床诊断中,通过染色体微阵列和外体序列测定检测到的副本数变异的高一致性

Rivka Birnbaum¹, Maya Slovik¹, Shamir Zenvirt¹

¹Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.

Clinical genetics

|September 27, 2025

概括

外体序列 (ES) 能够有效检测副本数变异 (CNV),为诊断遗传疾病提供了染色体微阵列 (CMA) 的经济有效替代方案.

科学领域:

遗传学是一个遗传学.
基因组医学是基因组医学.
临床诊断临床诊断临床诊断

背景情况:

外基组测序 (ES) 越来越多地用于拷贝数变异 (CNV) 检测,补充其用于单核酸变异 (SNV) 的主要用途.
染色体微阵列 (CMA) 是一种标准的,但可能不那么全面的诊断工具.
评估ES作为一级遗传疾病测试,对于提高诊断产量和成本效益至关重要.

研究的目的:

为了比较ES和CMA之间的CNV检测的灵敏度.
评估ES对三重症查的有用性.
支持ES作为神经发育迟缓和先天性形的主要诊断方法.

主要方法:

在1563例产前和4884例产后病例中,从ES数据中检测CNV的回顾性分析.
用两种方法测试的个体中ES CNV检测一致性与CMA的比较.
三重症查和对同卵性核细胞核细胞的分析的发展.

主要成果:

在被充分捕获的区域中,ES与临床相关的CNV与CMA具有很高的一致性 (98.91%).
在3.8%的产前样本和4.4%的产后样本中发现了CNV.
病原性或可能病原性变异分别占检测到的CNV的78.7%和78.0%.

结论:

外体序列测序是CMA的强大且具有成本效益的替代方案,用于检测CNV和其他遗传异常.
ES提供额外的诊断实用程序,如三重症查和单亲异构检测.
建议将ES作为一级测试广泛采用,用于诊断遗传性疾病.

关键词:

一个染色体微阵列.副本编号变体副本编号变体诊断产出率是指诊断产出率是指诊断产出率.外基因组测序是指外基因组的测序.产后的产后的产后在产前产前产前.

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