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非侵入性产前检测在检测胎儿拷贝数变化的有效性:一个回顾性队列研究

Li Yang¹, Jing Yang², Guosen Bu³

¹Center of Reproductive Medicine, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054, People's Republic of China.

International journal of women's health

|October 9, 2024

概括

非侵入性产前检测 (NIPT) 显示,检测胎儿拷贝数变异 (CNV) 的错误阳性率很高. 进一步测试对于确认NIPT发现和避免不必要的侵入性程序至关重要.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
基因组医学是基因组医学.

背景情况:

病理副本数变异 (CNVs) 对于诊断遗传性疾病至关重要.
非侵入性产前检测 (NIPT) 是用于查胎儿内核病毒的查工具.

研究的目的:

调查NIPT在检测胎儿CNV中的效率.
分析NIPT检测到的亚染色体微切除和微重复的积极预测值.

主要方法:

带有CNV的胎儿的回顾性分析 (2018年1月 - 2020年12月).
进行型分析和CNV测序 (CNV-seq).
分析了NIPT对各种CNV类型和大小的积极预测值 (PPV).

主要成果:

尼普特确定了58名异常CNV的受试者;44人接受了羊膜切割.
在24例病例中,CNV-seq证实了CNV,表明NIPT的虚假阳性率为45.5%.
型错过了83.3%的CNV被CNV-seq证实;PPV因CNV大小和类型而异,从33.3%到65.2%不等.

结论:

对于CNV的NIPT发现需要通过超声波,型分析,CNV-seq或染色体微阵列分析 (CMA) 进行确认.
扩大NIPT的使用可能会增加不必要的侵入性手术和意外选择性终止怀孕的风险.

关键词:

基因组复制号变异的变化这是下一代测序.非侵入性的产前查.产前诊断在产前诊断.

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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...