FISH快速检测自然流产绒毛染色体非整倍体异常的临床价值

摘要

目的:探讨应用荧光原位杂交技术( FISH)对早期自然流产绒毛染色体非整倍体检测的临床价值.方法:对30例因自然流产行清宫术的绒毛组织行FISH分析,使用7种探针对13、16、18、21、22号和X、Y染色体进行了检测,并对这30例流产夫妇行外周血淋巴细胞染色体常规核型分析.结果:FISH分析的30例自然流产的绒毛组织中,有17例检测出了异常信号,检出率为57％,其中8例16-三体、2例22-三体、2例13-三体和5例三倍体.30例自然流产夫妇外周血淋巴细胞染色体核型未见异常.结论:FISH技术可以快速、简便地检测出流产物绒毛组织染色体非整倍体的异常,FISH技术的应用可以为自然流产夫妇遗传咨询提供重要的信息.%Objective;To evaluate the application of fluorescence in situ hybridization (FISH) for the detection of chromosomal aneuploidy in chorionic villus of spontaneous abortion. Methods:Thirty cases of chori-onic villus were analyzed by FISH, and seven probes were used to detect chromosomes 13, 16, 18, 21, 22, X, Y respectively. Results:In the thirty cases, seventeen cases were shown abnormal signals by FISH with detection rate of 57%, including eight cases of 16-trisomy, two cases of 22-trisomy, two cases of 13-trisomy and five cases of triploidy. Conclusions:FISH analysis is a rapid and easy method in the detection of chromosomal aneuploidy in chorionic villus. The application of FISH can provide important information of genetic counseling for the patients with spontaneous abortion.