1 780例自然流产患者的细胞遗传学分析

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。

Cytogenetic study of 1780 cases of spontaneous abortion

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.