高通量测序与荧光原位杂交检测早期自然流产绒毛染色体异常的分析  

Next generation sequencing and fluorescence in situ hybridization for detection of chromosome abnormalities in early spontaneous abortion villi

作　　者：郭丽娜[1] 刘盼[1] 赵敏英[1] 廖英[1] 田瑜 王翠芳[1] GUO Lina;LIU Pan;ZHAO Minying;LIAO Ying;TIAN Yu;WANG Cuifang(Department of Reproductive Medicine,Shijiazhuang First Hospital,Shijiazhuang Hebei 050000,P.R.China)

机构地区：[1]石家庄市第一医院生殖医学科,河北石家庄050000

出　　处：《中国计划生育和妇产科》2020年第5期48-51,共4页Chinese Journal of Family Planning & Gynecotokology

基　　金：河北省卫健委课题(项目编号:20170973)。

摘　　要：目的探讨荧光原位杂交(fluorescent in situ hybridization,FISH)、高通量测序(next generation sequencing,NGS)两种技术方法在自然流产绒毛染色体异常检测中的应用价值。方法回顾性分析石家庄市第一医院2017~2019年间早期自然流产患者112例,对其绒毛样本进行FISH和NGS分析,并利用统计学方法分析两种方法检测流产胚胎染色体异常的差异。结果FISH检测样本的成功率100.00%(112/112),其中检测异常54份,占比48.21%(54/112);NGS检测样本的成功率100.00%(112/112),其中检测异常58份,占比51.79%(58/112)。两种方法同时检测出绒毛染色体异常52例,同时检测出绒毛染色体无异常52例,FISH检测绒毛染色体正常而NGS发现有异常的6例,NGS检测绒毛染色体正常而FISH检测异常的2例。两种方法检验效果相同(Kappa=0.857,P<0.05)。结论染色体异常是导致自然流产的主要原因之一,FISH和NGS应用于临床流产物遗传学分析各具优势,因此在临床应用中还应结合不同患者实际情况慎重选择,提高检测的准确性、防止漏诊,为临床评估再生育风险提供参考。Objective To explore the application value of fluorescence in situ hybridization(FISH)and high-throughput sequencing(NGS)in the detection of chromosome abnormalities of spontaneous abortion villi.Methods A retrospective analysis of 112 patients with early spontaneous abortion in Shijiazhuang First Hospital from 2017 to 2019.The villus samples were analyzed by FISH and NGS,and used statistical methods to analyze the difference between the two methods to detect the chromosome abnormality of aborted embryos.Results The success rate of FISH testing samples was 100.00%(112/112),of which 54 were abnormal,accounting for 48.21%(54/112);the success rate of NGS testing samples was 100.00%(112/112),of which 58 were abnormal,accounting for 51.79%(58/112).Two methods simultaneously detected 52 cases of abnormal villous chromosomes and 52 cases of normal villous chromosomes.FISH detected normal villous chromosomes and NGS found abnormal villous chromosomes in 6 cases.NGS detected normal villous chromosomes and FISH found abnormal villous chromosomes in 2 cases.The two methods have the same test effect(Kappa=0.857,P<0.05).Conclusion Chromosome abnormality is one of the main causes of spontaneous abortion.FISH and NGS have advantages in the clinical analysis of clinical abortion genetics.Therefore,in clinical applications,it should be carefully selected according to the actual situation of different patients to improve the accuracy of detection and prevent missed diagnosis,and to provide a reference for clinical assessment of reproductive risk.

关 键 词：早期自然流产 绒毛染色体异常 高通量测序 荧光原位杂交 

分 类 号：R714.21[医药卫生—妇产科学]