Genomics in reproductive medicine: Current and future applications

Abstract

Genome sequencing technologies are increasingly employed in reproductive medicine. Their application encompasses the prevention of inheritable conditions to the offspring, the diagnosis of male and female infertility, as well as the discovery and investigation of novel pathological genetic variants determining reproductive incompetence. In this chapter, the use of preconception expanded carrier screening, and the association between genetic defects and infertility phenotypes is reviewed. Moreover, the challenges faced by genomics applications in reproductive medicine are discussed.