联合应用3种技术对复发性流产组织进行细胞遗传学分析

Cytogenetic analysis of three types of techniques for recurrent spontaneous abortion

目的评估荧光原位杂交(FISH)检测、染色体核型分析联合染色体拷贝数变异检测在复发性流产组织检测中的应用价值。方法采用FISH检测、染色体核型分析和染色体拷贝数变异检测对220例复发性流产组织进行检测,计算染色体异常结果。结果 FISH检测成功率为100.0%(220/220),染色体异常率35.9%(79/220);仅28.2%(62/220)的流产组织能进行细胞培养,培养成功率为91.9%(57/62),染色体核型分析成功率为77.5%(48/62);染色体拷贝数变异检测成功率为90.6%(29/32),染色体异常率为48.3%(14/29)。结论 FISH检测仍然是复发性流产组织合适的检测手段,染色体核型分析并不适合流产组织的大规模检测,染色体拷贝数变异检测作为补充检测手段,能够提高流产组织染色体异常的检出率。

Objective To evaluate the value of fluorescence in situ hybridization （FISH）,chromosome karyotype analysis and chromosome copy number variation in the detection of abortion tissue. Methods Totally 220 cases of recurrent abortion were detected by FISH,chromosome karyotype analysis and copy number variation,chromosomal abnormalities were counted. Results The success rate of FISH detection were 100.0%（220/220）,the rate of chromosomal abnormalities were 35.9%（79/220）;only 28.2%（62/220）recurrent abortion were cultured,the success rate of culture were 91.9%（57/62）,and the success rate of chromosome karyotype analysis were 77.5% （48/62）;the success rate of copy number variation detection were 90.6%（29/32）,the rate of chromosomal abnormalities were 48.3%（14/29）. Conclusion FISH is still the most suitable method for detecting recurrent abortion tissues.Chromosome karyotype analysis is not suitable for large-scale detection of abortion tissues.Chromosome copy number variation detection can improve the detection rate of chromosomal abnormalities in abortion tissues.