Received July 28, 2019
Accepted January 30, 2020

Infertility is a disease of the reproductive system, defined by the inability of sexually active couples to obtain gestation within a period of one year, without the use of contraceptive methods. Approximately 50% of the causes of infertility are of genetic origin. The objective of this study was to analyze the role of genetics in the area of human reproduction, reviewing the main genetic causes of infertility and the use of pre-implantation genetic tests in Brazil. A bibliographic review of articles found in databases such as PubMed, Scielo and Bireme from 1990 to 2019 was performed. A genetic cause can be seen in up to 20% of patients with severe azoospermia or oligozoospermia and these should be the candidates for genetic screening. In women, the genetic causes of infertility culminate in Premature Ovarian Failure, such as Fragile X Syndrome, X-trisomy, Turner's Syndrome, all of which are diagnosed by karyotype. The genetic investigation of the couple is fundamental since it provides counseling to the patients with risk of early loss of the reproductive capacity and to the offspring of the couple with genetic alteration. Pre-implantation genetic testing is important to avoid the occurrence of serious diseases in children of couples at increased risk and to increase the rates of success of assisted reproduction techniques by selecting euploid embryos for the transference. The interface between genetics and human reproduction has become increasingly larger, but discussions are still needed on which procedures are clinically and ethically acceptable and how they should be regulated.