辅助生殖技术治疗后自然流产胚胎的遗传学分析及其临床效应

Genetic Analysis and Its Clinical Effect of Spontaneous Abortion after Assisted Reproductive Techniques

目的:研究辅助生殖技术(ART)后自然流产胚胎的染色体异常率及遗传学改变与临床相关性。方法:选取经ART治疗妊娠后自然流产患者绒毛40例作为实验组,并选取正常自然流产患者绒毛113例作为对照组。2组绒毛经细胞培养,常规染色体制备后进行核型分析,培养失败或无法培养的绒毛应用多重连接依赖的探针扩增(MLPA)技术进行检测。结果:①实验组染色体核型异常20例,异常率为50.0%;对照组染色体异常核型60例,异常率53.1%,2组异常率差异无统计学意义(P>0.05);②实验组妊娠妇女不同年龄、不孕类型(原发与继发)、不孕症原因(单纯女方因素与合并男方因素)、周期类型(新鲜与复苏)之间的染色体异常率差异均无统计学意义(P>0.05),而常规IVF妊娠后流产者的染色体异常率低于ICSI妊娠后流产者(P<0.05)。由于病例数有限,需增加更多病例数来验证。结论:胚胎染色体异常是导致ART后早期自然流产的主要原因。运用多种遗传学检测技术,可以进一步分析ART后流产的病因,为不孕症的治疗提供帮助。

Objective：To analyze the chromosome abnormalities of spontaneous abortion tissues after assisted reproductive techniques （ART）,and to discuss the relationship between genetic change and clinical feature. Methods：40 cases of spontaneous abortion villuses from ART, and 113 cases from natural pregnancy as control, were studied by the routine G banding karyotyping after the standard cell culture and harvest. Those cases of culture failure or without culture were analyzed by the multiplex ligation-dependent probe amplification （MLPA）. Results： ①There was no significant difference in the rates of abnormal karyotyping between the ART group （50%, 20 cases） and the control group（53.1%,60 cases,P〉0.05）.②There were no significant differences in the rates of abnormal karyotyping when analyzed those parameters, including women age, primary or secondary infertility, infertility cause （male, female, or both）, cycle type （fresh or frozen） （P〉0.05）. Although there was significant difference in this rate when analyzed IVF method （routine IVF and ICSI） in the limited cases（P〈0.05）, it should be further studied in more cases. Conclusions：Chromosome abnomalities are the main reason of spontaneous abortion after ART. The combined genetic techniques to detect the spontaneous abortion tissues are helpful for the ART treatment of infertility.