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Review
. 2020 Oct 6;24(4):480-491.
doi: 10.5935/1518-0557.20200007.

Genetics in human reproduction

Vivian de Oliveira Rodrigues  1 , Fernanda Polisseni  2 , Gabriel Duque Pannain  1 , Miralva Aurora Galvão Carvalho  1
Affiliations
Review

Genetics in human reproduction

Vivian de Oliveira Rodrigues et al. JBRA Assist Reprod. .

Abstract

Approximately 50% of the causes of infertility are of genetic origin. The objective of this study was to analyze the role of genetics in human reproduction by reviewing the main genetic causes of infertility and the use of preimplantation genetic testing in Brazil. This literature review comprised articles in English and Portuguese published on databases PubMed, Scielo, and Bireme from 1990 to 2019. Randomized clinical trials and specialized guidelines were given preference whenever possible. Genetic cause can be traced back to up to 20% of the cases of severe azoospermia or oligozoospermia. Subjects with these conditions are good candidates for genetic screening. In women, genetic causes of infertility (fragile X syndrome, X-trisomy, and Turner's syndrome, some of which diagnosed with karyotyping) culminate with premature ovarian failure. Genetic screening helps advise couples of the risk of experiencing early reproductive capacity loss and of the chances of their offspring carrying genetic disorders. In addition to enhancing the prevention of serious diseases in the offspring of couples at increased risk of genetic diseases, preimplantation genetic screening improves the success rates of assisted reproduction procedures by allowing the selection of euploid embryos for transfer. The interface between genetics and human reproduction has gained significant relevance, but discussions are still needed on which procedures are clinically and ethically acceptable and how they should be regulated.

Keywords: female infertility; genetics; male infertility; preimplantation genetic diagnosis; preimplantation genetic screening.

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