高通量测序技术在流产物病因诊断中的应用价值

Application of high-throughput sequencing technology in detecting copy number variation of chromosome in abortion

目的探讨高通量测序技术在流产物病因诊断中的应用价值。方法收集2018年1月-2019年12月来浙江省台州医院妇产科和产前诊断中心的流产组织样本116例,进行高通量测序技术遗传学检测。结果 116例流产物标本的检测成功率为98.3%,检出染色体异常49例,异常率为43.0%(49/114),其中常染色体三体22例(44.9%,22/49)、性染色体数目异常9例(18.4%,9/49)、嵌合体5例(10.2%,5/49)及三倍体1例(2.0%,1/49),基因组拷贝数变异12例(24.5%),经查询公共数据库均涉及已知的致病基因序列。结论高通量测序技术可在全基因组的范围内检测出流产物染色体异常,可为流产组织检测提供更全面的信息,为患者的再次生育进行遗传风险评估和指导。

Objective To explore the application value of high-throughput sequencing technology in etiological diagnosis of abortion.Methods From January 2018 to December 2019,a total of 116 cases of unexplained spontaneous abortion from the Obstetrics and Gynecology and the Prenatal Diagnosis Center of Taizhou Hospital in Zhejiang Province were collected for genetic testing by high-throughput sequencing.Results The detection success rate of 116 abortion specimens was 98.3%.Among them,49 cases of chromosome abnormality were detected(49/114,abnormal rate 43.0%),of which there were 22 cases of autosomal trisomy(44.9%,22/49),9 cases of abnormal sex chromosome number(18.4%,9/49),5 cases of chimerism(10.2%,5/49),1 case of triploid sex chromosome(2.0%,1/49),and 12 cases of copy number variation(24.5%).All the known pathogenic gene sequences were referred to public databases.Conclusion The use of high-throughput sequencing,which can detect chromosome abnormality at a genome wide scale,provides more comprehensive information for detection of abortion tissue and provides genetic risk assessment and guidance for patients seeking to reproduce.