Assessment of chromosomal aneuploidies in sperm of infertile males by using FISH technique

Reproductive failure is one of the most important issues for the population at age of procreation and approximately 15% of the couples who try to conceive a baby encounter reproductive difficulties. In this study, we used multicolor fluorescent in situ hybridization (FISH) probes for chromosomes 13, 18, 21, X and Y to evaluate the aneuploidy incidence in sperm cells. The study group included 35 males with infertility and oligoasthenoteratozoospermia (OAT) and 20 males with normal fertility and normal semen characteristics for which the conventional cytogenetic investigation using peripheral blood revealed a normal karyotype. The overall chromosome disomy and nulisomy in OAT group was higher than the one identified in the control group. By comparing the incidence of the disomy in the OAT group, the highest incidence was the sex chromosome disomy, followed by the disomy of chromosomes 13, 21 (equal values) and then 18. The nulisomy incidence in the OAT group was higher for sex chromosomes, followed by the nulisomy of autosomes 13, then 21 and 18. As in these days, for patients with OAT, intra-cytoplasmic sperm injection (ICSI) is frequently used, it is important to inform the patients if they might have an increased risk of aneuploidies in embryos.