自然流产患者绒毛与复发性流产患者胚胎植入前遗传学筛查微阵列比较基因组杂交结果对比分析

Comparative Analysis by aCGH in Patients with Spontaneous Abortion Villus and PGS Embryos with Recurrent Spontaneous Abortion

目的:探讨植入前遗传学筛查(PGS)降低复发性流产(RSA)患者早期流产率的可能原因及临床意义。方法:通过微阵列比较基因组杂交(aCGH)检测,统计自然流产(SA)患者绒毛染色体非整倍性异常高发核型,分析该高发核型在RSA患者胚胎中的发生几率。结果:SA患者绒毛中16、X、15号3条染色体的非整倍性占绒毛染色体非整倍性异常的52.27%;在RSA患者胚胎中,该3条染色体非整倍性占胚胎染色体非整倍性异常的50.50%。结论:SA患者绒毛染色体异常类型相对集中,具有明显的高发核型;RSA患者胚胎染色体非整倍性高发核型与流产绒毛相一致,提示对RSA患者行PGS助孕,可规避染色体异常胚胎的着床,从而降低早期流产率。

Objective： To investigate the possible mechanism and clinical worth of preimplantation genetic screening （PGS） in reducing early abortion rate in patients with recurrent spontaneous abortion （RSA）. Methods： By the microarray comparative genomic hybridization （aCGH） detection, the aneuploidy karyotypes which had the high frequency appeared in the villus from patients with spontaneous abortion （SA） were explored. And then, the occurrence probability of these aneuploidy karyotypes in embryos from patients with RSA were detected. Results： The percent of villus with aneuploidy of 16, X or 15 was 52.27% in all aneuploidy anomalies villus from the patients with SA. And the percent of such aneuploidy was 50.50% in all aneuploidy anomalies embryos from the patients with RSA. Conclusion： The abnormal chromosome types which appear with high frequency in villus from the patients with SA also present a high frequency in embryos from the patients with RSA. It suggests that applying PGS in RSA patients is helpful to avoid implantation of chromosome abnormality embryos and reduce the early abortion rate.