Recurrent pregnancy loss (RPL) is pathogenically complicated and has an incidence rate of 2% to 5% in women of reproductive age. Only 50% of the RPL cases have been confirmed in etiology. 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 the genetic material of sperm and developmental potential of embryos are closely related to the outcome of pregnancy. All the processes of sperm generation and development, sperm-egg combination, and implantation and development of fertilized eggs are regulated by chromosomes and various genes. Half of the genomes in the embryo are provided by sperm. RPL may be induced by abnormal number and structure of sperm chromosomes and sperm DNA integrity, gene mutations, and epigenetic abnormalities. This review presents an overview on the advances in the studies of the role of sperm genetic abnormality in RPL, hoping to give some help with the prediction, diagnosis and treatment of the disease.
Keywords: genetics; recurrent pregnancy loss; sperm.