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

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 2 infertile males were checked by PGS. The percentage of the embryos with XX sex chromosomes was 6.79% and the percentage with XY or aneuploid sex chromosomes was 4.21% 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 1.2% and 68.7% 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, 0.42% and 40.9% 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.