Abstract
Abstract Paternally transmitted genetic defects may lead to birth defects and genetic diseases in offspring. In the last decade, a series of sensitive methods has been developed for detecting genetic and chromosomal damage directly in sperm, providing potential biomarkers for paternal risk factors for infertility ( see Cytogenetics of Infertility ), spontaneous abortions, as well as aneuploidy syndromes ( see Nondisjunction ), heritable chromosomal rearrangements, and certain genetic diseases in children. Among these, fluorescence in situ hybridization (FISH) has been adapted for the detection of both numerical and structural chromosomal abnormalities in human sperm as well as the sperm of several laboratory and domesticated animal species. Human sperm–FISH has identified several potential risk factors for chromosomally abnormal sperm including certain lifestyles factors and environmental/occupational exposures. Here, we summarize the advantages and challenges of sperm‐FISH for identifying paternal risk factors for abnormal reproductive outcomes.
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