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在日本妇女的非侵入性产前检测中检测到的母体拷贝数变化

Kaku Masuda¹, Hiroyuki Mishima^2,3, Koh-Ichiro Yoshiura^2,3

¹Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kmasuda0930@gmail.com.

Journal of human genetics

|January 13, 2026

概括

非侵入性产前检测 (NIPT) 可以检测日本孕妇的母体拷贝数变化 (CNVs) ≥0.8 Mbp. 这些CNV通常是良性的,不会影响生育能力或早期流产风险.

科学领域:

基因组学就是基因组学.
产前诊断在产前诊断
人类遗传学人类遗传学

背景情况:

非侵入性产前检测 (NIPT) 分析来自母亲血液的无细胞胎儿DNA,以检测染色体异常.
尼普特的全基因组测序能力还允许检测母体基因组信息,包括拷贝数变异 (CNV).
现有的关于母体CNV的大规模研究是有限的,特别是在日本人群中.

研究的目的:

在日本孕妇中进行第一个多中心,大规模的母性CNV队列研究.
建立可靠的检测门,并评估通过NIPT识别的母体CNV的临床意义.
评估日本队列中母性CNV的流行率和特征.

主要方法:

对46,082名接受NIPT的日本孕妇进行分析.
使用数组比较基因组杂交方法验证已识别的母体CNV.
接收器操作特征 (ROC) 曲线分析以确定最佳的CNV检测值.
检测到的CNV与公共基因组数据库 (ToMMo,gnomAD) 的比较.

主要成果:

确定了0.8Mbp的最低值,用于100%的特异性检测母体的CNV.
在6.3% (2907/46,082) 的参与者中检测到母亲的CNV.
最常见的CNV是在chr8: 3,842,478-6,092,478 (频率为2.67%) 的重复.
所有检测到的CNV都与公共数据库,特别是ToMMo,具有很高的一致性.
还确定了几种罕见的母体CNV.

结论:

在日本孕妇中,NIPT可靠地检测到母亲的CNV≥0.8Mbp.
已识别的母体CNV主要是良性基因组变异.
这些CNV不太可能与对生育能力或早期流产的不良影响有关.

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