FISH-based sperm aneuploidy screening in male partner of women with a history of recurrent pregnancy loss

Abstract

Abstract Background Recurrent pregnancy loss is defined as having the experience of three or more repeated pregnancy losses. Despite numerous studies, RPL etiology remains unclear; in this respect, many etiological factors have been thoroughly investigated. However, the contribution of male factors in RPL at the sperm aneuploidy has rarely been examined. The aim of the current study is to assess the existence of autosome and sex chromosome aneuploidy in sperm of men with history of recurrent pregnancy loss. In this prospective study, 50 men with a history of recurrent pregnancy loss were included as case group and 15 men with normal sperm analysis, without abortion history and with at least one child were included as control group. Two- and three-color fluorescence in situ hybridization technique was used for screening aneuploidy in 13, 18, 21, X, and Y chromosomes. Results Overall, the comparison of sperm aneuploidies in sex and autosome chromosomes (13, 21, 18) between case and control groups showed that chromosomal abnormality was significantly increased in men with RPL than men without history of RPL. Among all examined cells, about 18.28% nullisomy, 6.48% disomy, and 0.06% trisomy were observed. As well, two cells with XXYY and one cell with XXXY karyotype were observed. Among the analyzed chromosomes, the prevalence of nullisomy of chromosome 13 was higher than other studied chromosomes. Conclusion The results suggest the implication of sperm chromosomal abnormalities in recurrent pregnancy loss. Clinical application of FISH-based screening test is recommended for investigating sperm aneuploidy in RPL cases to counsel couples for making informed decision.

Keywords

• FISH
• RPL
• Sperm
• Aneuploidy