The increase in abnormal sperm parameters, sperm DNA fragmentation, nuclear chromatin decondensation, and sperm aneuploidy suggest possible causes of unexplained RPL.

Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk of aneuploid gametes production. Besides the direct effect on the involved chromosomes, these rearrangements might disturb the segregation of other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. In this study, six male carriers of translocations, four reciprocals and two Robertsonians, were investigated. In addition, seven fertile men with normal 46,XY karyotypes and normal sperm characteristics were enrolled as a control group. Spermatic fluorescent in situ hybridisation specific for chromosomes X, Y, 18, 21 and 22 was carried out. The Mann-Whitney U-test was used to compare the aneuploidy rates between patients and controls. All translocation carriers showed significantly increased frequencies of disomy of all investigated chromosomes, and diploid gametes compared with the control group (p < .05). However, disomy XY was not significantly different between controls and patients (p > .05). We have also observed a considerable interindividual variability in disomy and diploidy rates. These results confirm that the interchromosomal effect seems to exist and could contribute to higher rates of abnormal prenatal aneuploidy, resulting in a small increase in the risk of miscarriage and birth of children with congenital abnormalities and a potential reduction in fertility.

Various nuclear sperm alterations are reported in patients with syndromic teratozoospermia; however, this has not been clearly identified yet in total polymorphic teratozoospermia. The aim of this study was to analyse sperm aneuploidy, DNA integrity and chromatin packaging in 45 infertile patients with total polymorphic teratozoospermia, and to compare obtained results with those collected from 25 fertile men. For 14 patients, the impact of nuclear sperm abnormalities on intracytoplasmic sperm injection (ICSI) outcomes was analysed. Sperm chromatin condensation was evaluated using aniline blue staining, DNA fragmentation by TUNEL assay and chromosome abnormalities by FISH. The mean DNA fragmentation index was significantly higher in patients compared to controls, weakly and positively correlated to acrosome defects (r = 0.3; p = 0.04) and positively and moderately correlated to microcephalic heads (r = 0.5; p = 0.027). The aniline blue‐reacted spermatozoa rate was also high in comparison with controls, moderately and negatively correlated to progressive motility (r = −0.6; p = 0.014). Total aneuploidy rate was considerably higher in our patients. A positive and moderate correlation was found between disomy Y rate and acrosome abnormalities (r = 0.5; p = 0.048). These patients had an impaired sperm nuclear quality, which will affect the results in ICSI. Therefore, analysis of sperm chromatin condensation, DNA integrity and aneuploidy in such cases is very useful before ART.