Y染色体异常男性不育症患者胚胎植入前性染色体遗传学筛查分析(英文)

Detect sex chromosome karyotype by PGS in embryo derived from infertile male with Y chromosome abnormality

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 identify the sex chromosome karyotype in the embryo derived from infertile male with Y chromosome abnormality,and investigate the necessity and feasibility of performing Preimplantation Genetic Screening（ PGS） in assisted reproductive treatment for such male. Methods： The embryos derived from infertile males with Y chromosome abnormality（ included AZFc gene microdeletion,Yqh ＋ and Yqh-） were generated by intracytoplasmic sperm injection. For the males who sign the informed consent for PGS,single blastomere biopsy was performed,and the sex chromosome karyotype in the embryos was detected by Vysis CEP X / Y DNA probe. The female（ XX） embryos were selected to be implanted. For the other males,their embryos with normal morphology were implanted. 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 male（ XY） or sex chromosomes aneuploid embryos was34. 21%,68. 75% and 45. 00% in the embryos derived from the infertile males with AZFc microdeletion,Yqh ＋ and Yqh-,respectively. The rates of embryo implantation and clinical pregnancy were 33. 93% and 44. 00% in PGS group,closed with those 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 all the rates（ P 0. 05）. Conclusion： Male and sex chromosomes aneuploid embryos present a high percentage in the embryos derived from infertile males with Y chromosome abnormality. It is necessary to perform PGS on these embryos to avoid the embryos with genetic defects in sex chromosome being implanted. In addition,PGS has no negative effects on the embryo implantation,embryo development and assisted reproductive treatment. Therefore,it is necessary and feasible to perform PGS in the assisted reproductive treatment for the infertile male with Y chromosome abnormality.