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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 causes and clinical significance of preimplantation genetic screening (PGS) in reducing abortion rate in patients with recurrent spontaneous abortion (RSA). Methods: By using microarray comparative genomic hybridization (aCGH) assay, the abnormal high incidence of aneuploidy in spontaneous abortion (SA) patients was analyzed. The incidence of high incidence of nuclear karyotype in embryos of RSA patients was analyzed. Results: The aneuploidy of chromosome 3 in chromosome 16, X and 15 in SA patients accounted for 52.27% of the aneuploidy aneuploidy. In RSA patients, the 3 aneuploidy accounted for 7% 50.50% of the euploidy abnormalities. Conclusions: The types of chromosomal abnormalities in SA patients are relatively concentrated and have a high incidence of karyotype. The high prevalence of aneuploidy in RSA patients is consistent with that of abortion. It suggests that patients with RSA can get PGS-assisted pregnancy to avoid chromosomal abnormalities Implantation, thereby reducing the rate of early miscarriage.