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目的分析Y染色体异常男性不育症患者胚胎性染色体组成,探讨辅助生殖治疗中对此类患者胚胎行植入前遗传学筛查(PGS)的必要性与可行性。方法对Y染色体异常(Y染色体AZFc区缺失、Yqh+、Yqh-)男性不育症患者经ICSI技术形成胚胎。同意进行PGS的患者,对其胚胎进行单卵裂球活检,采用Vysis CEP X/Y DNA探针检测胚胎的性染色体组成,选择女性胚胎(XX)植入。不同意进行PGS的患者,选择形态学发育正常的胚胎植入。植入后观察胚胎的着床率、临床妊娠率及流产率。结果共对25例此类患者的281个胚胎进行了PGS筛查。在Y染色体AZFc区缺失患者、Yqh+患者、Yqh-患者胚胎中男性(XY)及性染色体非整倍性胚胎的比例分别为34.21%、68.75%和45.00%。PGS组患者胚胎着床率(33.93%)和临床妊娠率(44.00%)与非PGS组(30.42%和44.95%)相近,PGS组胚胎流产率(9.09%)低于非PGS组(14.29%),但均无统计学差异(P>0.05)。结论 Y染色体异常男性不育症患者的胚胎中,男性与性染色体非整倍性胚胎占有较高比例,因此有必要对此类患者胚胎行PGS筛查以避免带有性染色体基因缺陷的胚胎被盲目植入。PGS技术对胚胎的着床、发育及辅助生殖治疗无负面影响,其临床应用是可行的。
Objective To analyze the embryonic chromosomal composition in patients with Y-chromosome abnormal male infertility and to explore the necessity and feasibility of assisted preimplantation genetic screening (PGS) in assisted reproductive therapy. Methods The embryos were formed by ICSI technique in patients with Y chromosome abnormalities (Y chromosome AZFc deletion, Yqh +, Yqh-) male infertility. Patients who agreed to undergo PGS had their blastomere biopsies performed. Vysis CEP X / Y DNA probes were used to detect the sex chromosome composition of the embryos. Female embryos (XX) were selected for implantation. Patients who did not agree to undergo PGS were enrolled with morphologically normal embryos. After implantation, observe the embryo implantation rate, clinical pregnancy rate and abortion rate. Results A total of 281 embryos from 25 such patients were screened for PGS. The proportion of male (XY) and sex chromosome aneuploidy embryos in Yqh + patients and Yqh-patients embryos was 34.21%, 68.75% and 45.00%, respectively. The embryo implantation rate (33.93%) and clinical pregnancy rate (44.00%) in PGS group were similar to those in non-PGS group (30.42% and 44.95% , But no statistical difference (P> 0.05). Conclusions Male embryos in Y male patients with Y chromosome abnormalities occupy a high proportion of sex chromosome aneuploidy embryos. Therefore, it is necessary to screen PGS in embryos of these patients so as to avoid the embryos with genotype defects Blindly implanted. PGS technology has no negative impact on embryo implantation, development and assisted reproductive therapy, and its clinical application is feasible.