Y染色体异常不育患者胚胎植入前性染色体筛查结果分析

Preimplantation genetic screening on sex chromosome in embryo derived from Infertile male with Y chromosome abnormality

要目的分析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（Preimplantation Genetic Screening，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，对其胚胎行单卵裂球活检，采用Vysis CEPX／YDNA探针和FISH技术检测胚胎的性染色体组成，选择女性胚胎植入。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25例此类患者的281个胚胎进行了PGS筛查，其性染色体组成及所占比例为：在Y染色体AZFc区缺失患者胚胎中XX为65．79％，XY及非整倍性为34．21％；在Yqh＋患者胚胎中分别为31．25％和68．75％；在Yqh-患者胚胎中分别为55．00％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（xY）胚胎与性染色体非整倍性胚胎占有较高比例，因此对此类患者胚胎行性染色体PGS是必要的。PGS技术对胚胎的着床及发育影响较小，对试管婴儿的成功率无明显影响，其临床应用是可行的。

Objective To analyze the composition of sex chromosome in the embryo derived from infertile male with Y chromosome abnormality, and explore the necessity and feasibility of performing Preimplantation Genetic Screening （PGS） in assisted reproductive treatment on such males. Methods The embryos were generated from infertile males with Y chromosome abnormality （included deletion of AZFc region, Yqh＋ and Yqh-） by intracytoplasmic sperm injection. For the males who signed the informed consent, single blastomere biopsy was performed on their embryos and the sex chromosome composition of the embryos was detected by Vysis CEP X/Y DNA probe and FISH. The female embryos were selected to be implanted. For the other males, their embryos with normal morphology were implanted. Then, the rates of embryo implantation, clinical pregnancy and miscarriage were measured. Results Total 281 embryos derived from 25 infertile males were checked by PGS. The percentage of the embryos with XX sex chromosomes was 65.79% and the percentage with XY or aneuploid sex chromosomes was 34.21% in the embryos derived from the infertile males with deletion of AZFc region. In the embryos derived from the Yqh＋ infertile males, the percentages were 31.25% and 68.75% respectively. In the embryos derived from the Yqh- infertile males, the percentages were 55.00% and 45.00% respectively. The rates of embryo implantation and clinical pregnancy were 33.93% and 44.00% in PGS group, closed with the rates in non-PGS group, 30.42% and 40.95% respectively. The miscarriage rate （9.09%） in PGS group was lower than that in non-PGS group （14.29%）. There were no significant difference between the rates （P〉0.05）. Conclusion Male （XY） and aneuploid sex chromosomes embryos presents a high percentage in the embryos derived from infertile males with Y chromosome abnormality, which suggests that it is necessary to perform PGS on these embryos to avoid the implantation of embryos with genetic defects. Furthermore, PGS has no significant effects on the embryo implantation, embryo development and the assisted reproductive treatment. Therefore, it is feasible in clinic to perform PGS in the assisted reproductive treatment for the infertile male with Y chromosome abnormality.