Abstract
Objective: To present a brief updated review on the importance of genetic evaluation of the infertile couple. Methods: This is an integrative review. The databases used were PubMed, PEDro, LILACS and Scielo using the MESH terms: 'genetic evaluation', 'infertile couple', 'couple genetics' and 'infertility assessment'. A total of 346 articles were found, of which 17 articles were selected for this brief review. Results: Infertility is a major public health problem. Thanks to technological advances, genetic testing is becoming increasingly relevant in reproductive medicine. In the presence or significant suspicion of reproductive risk caused by genetic alteration, genetic evaluation provides a more accurate diagnosis of the cause of infertility and allows couples to know the risks of having this genetic material transmitted to their offspring. The identification of genetic factors has become a good practice for the proper management of the infertile couple. Final considerations: Infertility is a problem that affects, in addition to the couple, health services and the social environment. Genetic tests are available to explore the cause of infertility and assess a couple's risk of passing on their genetic traits, having repeat miscarriages, or even investigating failure of previous IVFs.
References
AGARWAL A, et al. Male Oxidative Stress Infertility (MOSI): Proposed Terminology and Clinical Practice Guidelines for Management of Idiopathic Male Infertility. World J Mens Health, 2019; 37(3): 296-312.
ALEIXO AM, ALMEIDA V. Infertilidade. Revista de Ciência Elementar, 2021; 9(4).
CAMPOS F. A relação entre endometriose e infertilidade: uma revisão de literatura. Brazilian Journal of Health Review, 2021; 4(6): 24379-24390.
CAPALBO A, et al. Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data. Human Reproduction Update, 2021; 27(2).
CHEUNG S, et al. Genetic and epigenetic profiling of the infertile male. PLoS One, 2019; 21;14(3): e0214275.
HOUSTON BJ, et al. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships. Human Reproduction Update, 2021.
JIAO S, et al. Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice. Human Reproduction Update, 2021; 27(1): 154–189,.
KATZ DJ, et al. Male infertility - The other side of the equation. Aust Fam Physician, 2017; 46(9): 641-646.
LESLIE SW, et al. Male Infertility. StatPearls Publishing, 2022.
LOPES DD, et al. Impacto da infertilidade na psique feminina e a atuação do psicólogo: revisão integrativa. Anais de psicologia do UNIFUNEC, 2020; 7(7).
MARQUES PP, MORAIS NA. A vivência de casais inférteis diante de tentativas inexitosas de reprodução assistida. Av. Psicol. Latinoam, 2018; 36(2).
OKUTMAN O, et al. Genetic evaluation of patients with non-syndromic male infertility. J Assist Reprod Genet, 2018; 35(11): 1939-1951.
SALOMAO PB, et al. Sexual Function of Women with Infertility. Rev. Bras. Ginecol. Obstet, 2018; 40(12).
SHARMA RS, et al. Infertility & assisted reproduction: A historical & modern scientific perspective. Indian J Med Res, 2018; 148(Suppl): S10-S14.
SOUZA AM, et al. Casais inférteis e a busca pela parentalidade biológica: uma compreensão das experiências envolvidas. Pensando fam., 2017; 21(2).
TAJEDDIN N, et al. Evaluation of Myc Gene Expression as a Preventive Marker for Increasing the Implantation Success in the Infertile Women. Int J Prev Med, 2020;11: 18.
TOMÁS C, METELLO JL. Endometriose e infertilidade - onde estamos? Acta Obstétrica e Ginecológica Portuguesa, 2019; 13(4): 235-241.
