Possibilities of preimplantation genetic diagnosis in enhancing the efficiency of IVF/ICSI programs in married couples with male factor infertility and male genetic traits

Objective. To investigate the rate and pattern of chromosome abnormalities in embryos from married couples with male factor infertility and mutation in AZF locus of the Y chromosome; to comparatively evaluate the efficiency of assisted reproductive technologies (ART) in this group of patients with and without preimplantation genetic diagnosis (PGD). Subjects and methods. The prospective clinical trial included 46 married couples with mutations in AZF locus of the Y chromosome in men and with normal karyotypes of couples who needed an in vitro fertilization/ intracytoplasmic sperm injection (IVF/ICSI) program. A study group consisted of 24 married couples who underwent 41 IVF/ICSI cycles with PGD of embryos. A comparison group comprised 22 married couples who underwent 39 IVF/ICSI cycles without PGD. Preimplantation genetic analysis was carried out by a fluorescent in situ hybridization (FISH) technique (using probes (Abbott) for chromosomes X, Y, 13, 18, and 21) on day 3 of embryo culture. In the study group, female embryos without abnormalities in the study chromosomes were selected to be transferred to the uterus. Nonparametric methods (Mann-Whitney test) and chi-square test were used for the statistical analysis of the data. Results. The results of PGD in married couples with mutation in AZF locus of the Y chromosome showed that the level of aneuploidy in the embryo blastomere nuclei was 59.7%. Gonosomal aneuploidies (43.4%) and chromosome 18 pathology (32.1%) were most common. Comparative analysis of IVF/ICSI programs in the study groups revealed no statistically significant differences in implantation rate and clinical pregnancy rate per stimulated cycle and per embryo transfer. However, the rate of reproductive losses in the non-PGD group was 7 times higher than that in the PGD group, accounting for 88.9% versus 12.5% (p = 0.007). The live birth rate per embryo transfer cycle was 8 times greater in the PGD group than that in the non-PGD group, amounting to 22.6 and 2.9%, respectively (p = 0.014). Conclusion. The married couples with male factor infertility and mutation in AZF locus of the Y chromosome in men form a group at risk of having a miscarriage and giving birth to babies with chromosome abnormalities, which needs treatment strategies for infertility to be individualized in these patients. To enhance the efficiency of ART programs in this patient group, it is expedient to make a preimplantation genetic screening and an analysis of the full spectrum of chromosomes in embryos.

assisted reproductive technologies, male infertility, aneuploidies, preimplantation diagnosis