【摘要】 目的探讨分析复发性流产与染色体异常及多态性的临床相关性。方法将2013年1月至2018年1月于山西省人民医院生殖医学科的1368例(684对)复发性流产患者作为研究组,同时选取764例(382对)无流产史且正常分娩的夫妇作为对照组。作常规技术的外周血淋巴细胞培养,G显带染色体核型分析。结果 1368例复发性流产患者中,检出异常核型223例,异常核型检出率为16.3%(223/1368);其中多态性核型为182例,占异常核型81.6%,异常检出率13.3%;相互易位核型10例,占异常核型4.48%,异常检出率0.73%;罗式易位31例,占异常核型13.9%,异常检出率2.27%。而在764例对照组中只检出多态性核型27例,异常检出率3.53%(27/764)。研究组中多态性检出率显著高于对照组,差异具有统计学意义(P<0.05)。结论染色体核型异常是导致复发性流产的一类重要遗传学因素;此外,多态性的存在可能增加了复发性流产的风险,建议临床应重视多态性与复发性流产的可能潜在关系。更多还原

【Abstract】 Objective:To investigate the association between recurrent spontaneous abortion(RSA)and abnormal chromosome karyotype including chromosome polymorphism. Methods:For the patients between January 2013 and January 2018 in reproductive medicine department of Shanxi Province people′s hospital,1368 cases(684 couples)with RSA were selected as study group,in the meanwhile,764 cases(382 couples)with no abortion or miscarriage history and normal childbirth were selected as control group.Peripheral blood lymphocyte culture was performed and chromosome karyotype analysis was carried out by using G banding karyotype analysis. Results:Among the 1368 patients with RSA history,223 abnormal chromosome karyotypes were detected,and abnormal detection rate was 16.3%(223/1368). Of 223 patients with abnormal chromosome karyotype,polymorphism karyotype were 182 cases,accounting for 81.6% in abnormal karyotype,abnormal detection rate was 13.3%.Translocation karyotype were 10 cases,accounting for 4.48 % abnormal karyotype,anomaly detection rate was 0.73%. Robert translocation were 31 cases,accounting for 13.9% in abnormal karyotype,anomaly detection rate was 2.27%. In the control group,27 cases with chromosome polymorphism were detected,and abnormal detection rate was 3.53%(27/764). The detection rate of polymorphism in study group was significantly higher than that in control group,the difference was statistically significant(P<0.05). Conclusion:Chromosome abnormal karyotype is an important genetic factor,leading to RSA history,and furthermore,chromosome polymorphism may increase the risk of RSA,which should be given much more attention in clinic diagnosis.更多还原