Fluorescence in-situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss in the Iranian population

Background: The definitions of recurrent pregnancy loss (RPL) are traditionally defined as three or more consecutive pregnancy losses. Despite numerous studies, RPL etiology remains obscure and the presence of an etiologic factor seldom suggests a conclusive diagnosis of the cause. While all of proposed etiological factors have been extensively explored, the male contribution to recurrent abortion at the sperm chromosome level has rarely been examined.Objective: Our purpose was to assess the existence of sperm autosome and sex chromosome aneuploidy in recurrent pregnancy loss (RPL).Materials and Methods: In this prospective study, 15 men with recurrent pregnancy loss and 5 men with normal sperm analysis, without abortion history and with at least one child were included. Two- and three-color fluorescence in situ hybridization (FISH) technique was used for screening aneuploidy in 13, 18, 21, X, and Y chromosomes.Results: In total, the percentage of sperm aneuploidy was significantly increased in men with RPL than normal men. Among analysed chromosome, prevalence of nollisomy of chromosome 13 was higher rather other studied chromosomes. As well, our results showed that normal karyotype in blood cells does not exclude the presence of sperm chromosomal abnormalities.Conclusion: These results suggest an implication of sperm chromosome abnormalities in some cases of recurrent pregnancy loss. The increased incidence of sperm chromosome abnormalities observed in the recurrent abortion patients does not rule out other factors such as maternal contribution. However, according our results, we would like to suggest evaluating sperm aneuploidy in couples with unexplained recurrent abortions especially with the ones with chromosomally abnormal aborted fetus.

کلیدواژه ها:

RPL ، Male factor ، Aneuploidy of sperm ، FISH