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评估非侵入性产前查对查实验室之间的副本数变异的评估

Ping Tan¹, Dandan Li¹, Lu Chang¹

¹National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, PR China; National Center for Clinical Laboratories, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, PR China; Beijing Engineering Research Center of Laboratory Medicine, Beijing Hospital, PR China.

Clinical biochemistry

|July 28, 2023

概括

这项研究评估了中国的复制数变异 (CNV) 的非侵入性产前查 (NIPS). 虽然大多数实验室表现良好,但NIPS对CNV的准确性需要标准化,胎儿分数,删除大小和读取深度会影响检测率.

科学领域:

临床遗传学临床遗传学
分子诊断学分子诊断
生殖健康生殖健康

背景情况:

非侵入性产前查 (NIPS) 正在扩大用于检测副本数变异 (CNVs).
外部质量评估 (EQA) 对于评估NIPS中NVs的实验室性能至关重要.

研究的目的:

评估中国实验室对CNV进行扩展NIPS的现有能力.
确定影响NIPS用于CNV检测的准确性的因素.

主要方法:

一个EQA程序涉及12个人工CNV样本与不同的胎儿分数 (5-15%).
样品分发给69个参与实验室进行分析.
调查问卷和案例场景被用来收集额外的数据.

主要成果:

91.30%的实验室正确识别了所有CNV样本.
7.25%的人报告了假阴性结果,2.90%的人报告了意想不到的CNV.
随着胎儿分数,删除大小和读取深度的增加,检测率有所改善;关键性能指标的报告有限.

结论:

对CNV的NIPS需要在实验室实践中进一步改进和标准化.
胎儿分数,删除大小和读取深度是影响NIPS对CNV检测准确性的关键因素.

关键词:

副本数量变化的变化胎儿的分数胎儿的分数微切除综合征是一种微切除综合征.非侵入性的产前查.阅读深度阅读深度

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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