Aneuploidy frequency in spermatozoa of Egyptian men with normal and abnormal semen parameters using fluorescence in situ hybridisation

Chromosome anomalies were suggested to be more frequent in infertile males so our case-control study aimed at evaluating the incidence of spermatic aneuploidies in forty males with severe oligoasthenoteratozoospermia (OAT) and comparing it with that in another forty males having normal semen parameters. Semen samples were collected and analysed in the Clinical Pathology Department according to criteria of the World Health Organization (WHO laboratory manual for the examination and processing of human semen, 2010, WHO Press). Fluorescence in situ hybridisation (FISH) was performed on decondensed spermatozoa from fresh semen ejaculates, using dual coloured chromosome-specific DNA probes labelled with fluorochromes to study sperm aneuploidies in chromosomes 13, 21, X and Y. There was no statistical significant difference between cases and controls regarding disomy frequencies for chromosomes 13, 21 or both combined. However, 13, 21 diploidy frequency was significantly higher among OAT cases. Regarding chromosomes X and Y, both cases and controls showed similar results for disomy/diploidy frequency for both chromosomes; however, there was a statistical significant increase in YY disomy/diploidy frequency among OAT patients. X chromosome-bearing spermatozoa were found to be significantly higher among controls. Patients with severe OAT have a higher total sperm aneuploidy rate, regarding chromosomes 13, 21, X and Y but without a statistical significant difference.