Genetic Screening for Sperm Aneuploidy by Fluorescent in Situ Hybridization (FISH) in Severe Cases of Male Infertility

Abstract

Spermatogenesis is a highly organized and specialized process of development and differentiation of the primordial male germ into functional spermatozoa. During this development numerous mitosis and meiosis divisions take place. Mistakes during these mitosis and meiosis I and II divisions may cause numerical chromosomal aneuploidies in autosomal and/or sex chromosomes. The presence and frequency of abnormal numbers of chromosomes of spermatozoa are evaluated by fluorescent in situ hybridization (FISH). Abnormalities in sperm FISH findings may cause infertility or various types of reproductive problems. This chapter aims to discuss the role of sperm aneuploidy in the pathogenesis of male infertility and the methods used for assessment of these numerical aberrations, and the impact of sperm aneuploidies on reproductive outcomes. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2024.