荧光原位杂交快速检测自然流产胚胎染色体数目异常

月的探讨应用荧光原位杂交技术对早期自然流产组织染色体数目异常检测的临床价值。方法采用13、21和16、22和18、X、Y三组染色体探针，对45例自然流产患者的绒毛或胎儿组织标本进行FISH检测。结果共检出染色体异常25例，异常率为55．6％。异常类型有三体型14例、多倍体型8例、单体型2例及性染色体缺失型1例。结论FISH技术可以快速、简便地检测出流产组织染色体数目畸变，其应用可以为自然流产夫妇遗传咨询提供重要信息。

Rapid detection of chromosome numerical abnormalities in spontaneous abortions by fluorescence in situ hybridization.

Objective： To evaluate the application of fluorescence in situ hybridization （FISH） for the detection of chromosomal abnormalitity in spontaneous abortion. Methods： Forty-five cases of chorionic villus or fetal tissue were analyzed by FISH, and seven probes were used to detect chromosomes 13, 16, 18, 21, 22, X, Y respectively. Results： Twenty-five cases were shown abnormal signals by FISH with detection rate of 55.6%, including fourteen cases of 16-trisomy, eight cases of multiploidy, two cases of 21-monosomy and one cases of sex chromosome deletion. Conclusions： FISH analysis is a rapid and easy method in the detection of chromosomal numerical abnormalitity in spontaneous abortion. The application of FISH can provide important information for genetic counseling of patients with spontaneous abortion.