高通量测序技术进行流产组织染色体拷贝数检测的结果分析

Copy number variation analysis of abortion tissue by massively parallel sequencing

目的探讨高通量测序染色体DNA拷贝数(CNVs)分析技术在流产病因查找中的应用价值。方法收集2015年11月至2017年11月在甘肃妇幼保健院就诊的266例自然流产患者的流产组织、稽留流产组织、绒毛组织,进行染色体核型分析与CNV检测。结果 266例样本中,核型分析共检测出异常79例,其中,单体17例、三体61例、双重三体1例;CNV分析共检测出155例异常,其中致病性CNVs改变119例,包括非整倍体112例(其中单体26例、三体83例、双重三体3例)、致病性缺失或者重复7例。结论高通量测序技术可以更全面地发现染色体异常改变,查明流产的遗传学病因,为再次妊娠提供临床建议和遗传咨询。

Objective： To explore the va sequencing in genetic etiology ana ue of using copy number variation analysis based on massively parallel ysis for abortion tissue. Methods： A total of 266 samples of abortion tissues,missed abortion tissue,and villus of spontaneous abortion patients were collected in Gansu Provincial Maternity and Child care Hospital from November 2015 to November 2017. DNA was extracted from abortion tissue, and then karyotype and copy number variation（CNV）analysis were tested. Results： Among the 266 samples, 79 abnormal chromosomal karyotypes were detected by karyotype analysis,including 17 monomer, 61 trisomy and 1 double trisomy. A total of 155 abnormalities were detected in CNV analysis, of which 119 cases had pathogenic CNVs change, including 112 aneuploidy（26 monomer,83 trisomy,3 double trisomy）and 7 loss of pathogenicity or repetition. Conclusions： Massively parallel sequencing is much more sensitive, efficient, and it can obtain high detection rate than chromosomal karyotype technology. It can be used to discover more comprehensively chromosomal abnormalities, and provide clinical advice and genetic counseling for next pregnancy.