【摘要】 目的 :探讨流产患者染色体异常的频率和核型分布以及染色体平衡易位对生育的影响。方法 :对 92 5 8例自然流产患者进行染色体核型分析。采用淋巴细胞培养 ,常规收获制片 ,G显带处理。必要时加做 C带、N带分析。结果 :本组患者染色体的异常率为 2 .72 % ,男性和女性分别为 2 .12 %和 3.32 % ,两者差异有显著性 (P<0 .0 1)。流产超过 3次的患者 ,其染色体异常率显著性增加 (P<0 .0 1)。在 2 5 2例异常核型中 ,平衡易位、数目异常、倒位、缺失和标记染色体分别占 81.0 % ,13.1% ,4 .0 % ,0 .4 %和 0 .8%。 130例平衡易位携带者共有 4 73次妊娠 ,流产占 90 .1% ,死胎、分娩异常后代、分娩正常后代、分娩易位后代分别为 4 .7%、4 .0 %、1.1%、0 .2 %。结论 :流产患者中 ,女性染色体异常率高于男性 ,流产超过 3次的患者 ,其染色体异常率显著增加。平衡易位是流产患者主要的异常核型 ,其妊娠结局以流产为主 ,应进行遗传咨询和产前诊断。更多还原

【Abstract】 Objective: To investigate the incidence and identify the type of chromosome abnormalities in couples with spontaneous abortion. Also to observe the effect of balanced translocation on pregnancy outcome. Methods: A total of 9 258 cases of spontaneous abortion were studied. Lymphocyte culture and harvest were performed according to standard methods. Karyotypes were analyzed by G-banding in all cases and C- or N-banding in some cases in additions. Results: The overall incidence of chromosomal abnormalities was 2.72%(women 3.32%, men 2.12%). In women with 4 or more spontaneous abortions, the incidence of chromosomal abnormalities was significantly higher (4.9%, P <0.01). Among the 252 cases the following chromosome abnormalities were noted: translocations(81.0%), numerical abnormalities (13.1%), inversions (4.0%),deletion(0.4%) and marker chromosomes(0.8%). There were 473 pregnancies in 130 carriers of balanced translocations ; their spontaneous abortions rate was 90.1%. Conclusion: Women with a history of spontaneous abortion have a higher rate of chromosomal abnormalities than their male partner. Chromosomal abnormalities are significantly more common in women with 4 or more spontaneous abortions. Balanced translocations are the major abnormal karyotpes associated with spontaneous abortions. In such patients, prenatal diagnostic testing is advised for all subsequent pregnancies.更多还原