Analysis of Sperm DNA Fragmentation and Aneuploidy in 109 Infertile Patients: Are the Two Parameters Correlated?

Abstract

Purpose: To evaluate the association between sperm DNA integrity and chromosomes aneuploidies in a considerable population of infertile patients undergoing assisted reproductive treatment (109 male) characterized by both normal and abnormal semen parameters. Methods:In 109 infertile patients with normal and abnormal semen parameters, the assessments of sperm DNA fragmentation by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labelling (TUNEL) and chromosome aneuploidy by fluorescence in situ hybridization (FISH) have been performed on the same semen sample. Sperm samples were collected by masturbation into sterile cups after 3-5 days of sexual abstinence, allowed to liquefy for 30 min at room temperature and then divided in two aliquots, one processed by double gradient centrifugation (DGC) and used for TUNEL assay, whereas the remained aliquot was left unprocessed and used for FISH test. Results:The main results indicate a significant positive correlation between sperm chromosome aneuploidies and DNA integrity in patients with abnormal semen parameters (R=0.516 p=0,000) and negative not significant correlation in patients with normal seminal parameters (R=-0.105, p=0.476). Conclusions:Assuming the positive correlation between the two biomarkers in patients with defective spermatogenesis, high DNA fragmentation index (DFI) could perhaps be indicator of high chromosome aneuploidies level, thus increasing the risk of generating aneuploid embryos. Therefore, a clinical strategy could probably be to integrate also the preimplantation genetic screening (PGS) in ART treatment plan, in addition to the evaluation of sperm DNA fragmentation and/or sperm chromosome aneuploidy, to avoid transfer of chromosomally abnormal embryos.

Correlation between sperm DNA fragmentation index and semen parameters in 418 men seen at a fertility center

“…These results are consistent with other studies from Peru, such as those of Acosta & Dueñas (2014), which found a mean DFI value among ALTERED patients to be significantly higher than in the NORMO patients (22.95 ± 12.25 vs 14.39 ± 9.06); and Acosta et al (2016) found significant differences in the mean value of DFI between ALTERED and NORMO patients (21.51 ± 14.18 vs 14.08 ± 7.08, respectively). Similar results were reported by other studies evaluating fertile and infertile patients using the SCD test (Fernández et al, 2005;Chohan et al, 2006;Evgeni et al, 2015;Wiweko & Utami, 2017;Majzoub et al, 2019) and other tests (Sergerie et al, 2005;Chohan et al, 2006;Sheikh et al, 2008;Mayorga-Torres et al, 2013;Di Santo et al, 2016). On the other hand, the study by Khalili et al (2006) did not find significant differences in the value of DFI between fertile and infertile patients using the acridine orange staining test.…”