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扩大非侵入性产前检测对母体拷贝数变异的准确性:用CNV-seq对母体淋巴细胞DNA进行比较研究

Honglei Duan¹, Wanjun Wang¹, Ying Zhang¹

¹Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.

Taiwanese journal of obstetrics & gynecology

|July 14, 2024

概括

扩展的非侵入性产前检测 (NIPT) 可以准确检测2 Mb或更大的母体拷贝数变化 (CNVs). 这种全基因组方法以高精度证实了研究结果,改善了孕妇的产前诊断.

科学领域:

遗传学遗传学是一个
产前诊断在产前诊断
基因组医学是基因组医学.

背景情况:

非侵入性产前检测 (NIPT) 是用于查胎儿形积分病的一个有价值的工具.
母体拷贝数变化 (CNVs) 可以影响怀孕结果,但在标准NIPT中不常被评估.
准确检测母亲的CNV对于全面的产前评估至关重要.

研究的目的:

评估扩展NIPT的诊断准确性,用于检测母体CNV≥2 Mb.
为了验证基于NIPT的CNV检测的可靠性与黄金标准方法相比.

主要方法:

用全基因组扩展的NIPT来识别≥2 Mb的CNV.
对于母体缺失 (CN ≤1.6) 和重复 (CN ≥2.4) 定义了特定的值.
母性淋巴细胞DNA的CNV-seq被用于确认.

主要成果:

扩展的NIPT成功地在5440名孕妇中27名孕妇中确定了28名孕妇的CNV (≥2Mb).
其中23个CNV被CNV-seq在母体淋巴细胞中证实.
对基因组位置,拷贝数和碎片大小的NIPT结果与确认性测试一致.

结论:

扩展的NIPT在评估母体CNV≥2 Mb时表现出很高的准确性.
来自扩展的NIPT的副本数 (CN) 值可靠地表明母体CNV的存在.
这项技术提供了一种精确的方法来识别怀孕期间母亲的显著基因组变化.

关键词:

没有细胞的DNA.副本数量的变化副本数量的变化淋巴细胞DNA 淋巴细胞DNA 非侵入性的产前检测.

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