自然流产患者的细胞遗传学分析

目的：探讨流产患者染色体异常的核型分布以及染色体平衡易位以生育的影响。方法：9258例自然流产患者进行染色体核型分析。采用淋巴细胞培养，常规收获制处，G显带处理。必须要加做C带、N带分析。结果：本组患者染色的异常率为2．72％，男性和女性分别为2．12％和3．32％，两者差异有显著性（P＜0．01），流产超过3次的患者，其染色体异常率显著性增加（P＜0．01）。在252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例平衡易位携者有473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。

Cytogenetic analysis on patients with a history of spontaneous abortion

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.