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在自发流产中应用拷贝数变异测序的经验

Yi-Fang Dai^1,2, Xiao-Qing Wu^1,2, Hai-Long Huang^1,2

¹College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian, China.

BMC medical genomics

|January 8, 2024

概括

副本数变异测序 (CNV-seq) 和定量光 (QF) -PCR有效检测自发流产中的染色体异常. 这些基因测试是建议所有流产,无论患者的病史或妊娠年龄,以确定流产的原因.

科学领域:

生殖遗传学生殖遗传学
基因组分析基因组分析
临床诊断临床诊断临床诊断

背景情况:

染色体异常 (CA) 是自发流产的主要原因.
对受孕产物 (POC) 的精确基因检测对于了解流产至关重要.
之前在POC中检测CA的方法有局限性.

研究的目的:

评估复制数变异测序 (CNV-seq) 和定量光 (QF) -PCR的诊断价值,用于分析自发性流产标本中的染色体异常.
确定POC中临床重要副本数变异 (CNV) 的频率和特征.

主要方法:

对来自自发流产的650种受孕产物 (POC) 的分析.
在基因分析中应用CNV-seq和QF-PCR.
遗传发现与患者的临床特征的相关性.

主要成果:

在54.6%的POC中检测到临床显著的染色体异常.
自体三体 (33.4%) 和单体三体 (6.5%) 是最常见的CA.
在6.2%的病例中,CNV-seq和QF-PCR确定了致病性CNV (pCNV).
没有发现CA频率与孕产妇年龄或先前流产史之间的显著关联,除了晚年孕产妇中减少的CNV检测.

结论:

染色体异常是导致怀孕流产的主要原因.
使用CNV-seq和QF-PCR进行胚胎染色体检查,建议在所有自发流产的情况下进行.
建议不论怀孕年龄,受孕方法或先前的堕胎史,都进行测试.

关键词:

染色体异常是一种染色体异常.遗传学是一个遗传学.高通量核酸测序的测序

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