Sperm genetic abnormality testing in recurrent pregnancy loss cases: a narrative review

Abstract

Abstract Background Recurrent pregnancy loss (RPL), which mostly is of unknown etiology (unexplained RPL, uRPL), is defined as three or more consecutive spontaneous abortions. Recurrent pregnancy loss (RPL) is a problem affecting up to 5% of women of childbearing age due to many factors. Results The underlying cause is complicated, and the etiology of over 50% of RPL patients is unclear. So far, studies on the etiology of RPL have focused on women, and little attention has been paid to the role of sperm in the development and progression of the disease. Many clinical studies have shown that sperm genetic material and embryonic development potential are closely related to pregnancy outcome. The formation and development of sperm, the combination of sperm and oocyte, and the implantation and development of fertilized oocyte are regulated by chromosome and genes. Because the genome of embryo is provided by sperm, the abnormality of sperm chromosome number and structure, sperm DNA integrity, gene mutation, and epigenetic abnormality may lead to RPL. Conclusions This article reviews the advances in the studies of the role of sperm genetic abnormalities in RPL, hoping to contribute to the prediction, diagnosis, and treatment of RPL in the future.