1780例自然流产患者的细胞遗传学分析

Cytogenetic study of 1780 cases of spontaneous abortion

目的:探讨染色体异常与不良妊娠史的关系,为生殖中心自然流产病例的遗传咨询和产前诊断提供指导。方法:培养淋巴细胞,常规收获制片,G显带处理,必要时加做C带分析,对1780例具有妊娠24周前自然流产史的患者进行染色体核型分析。结果:共发现染色体异常57例,异常率为3.20%。其中平衡易位23例,罗氏易位14例,复杂易位3例,其它17例。流产1次、2次与流产3次及以上者,其染色体异常率频率分别为1.7%,2.3%和5.8%。结论:在自然流产病例的染色体异常中,染色体易位是主要类型。染色体异常检出率随着自然流产次数的增加而有升高的趋势。流产3次以上群体中,染色体异常频率明显增加。

Objective To explore the relationship between chromosome anomaly and spontaneous abortion, and to provide useful information for genetic counseling and prenatal diagnosis in reproductive clinic. Methods A total of 1780 patients who had a history of spontaneous abortion before 24 weeks of gestation were enrolled. The lymphocyte culture and harvest were performed according to standard methods. Karyotypes were analyzed by G-banding in all cases and C- banding in some cases in addition. Results Altogether 57 abnormal karyotypes were found and the overall incidence of chromosomal abnormalities was 3.20% (women 3.32%; men 2.12%). Among them 23 cases were the balanced translocation;14 cases were the Robertsonian translocation, 3 cases were the complex chromosomal rearrangement, and the other 17 cases were the other abnormalities. In women with 1, 2, 3 or more spontaneous abortion, the incidence of chromosomal abnormalities was 1.7%,2.3%, and 5.8%, respectively. Conclusion Translocations are the major abnormal karyotpes associated with spontaneous abortions. The chance of finding chromosomal aberration increases with the number of abortions. Chromosomal abnormalities are more common in women with 3 or more spontaneous abortions.