Genetics in Human Reproduction

Overview

Journal JBRA Assist Reprod

Specialty Reproductive Medicine

Date 2020 Apr 16

PMID 32293822

Citations 3

Authors

Vivian de Oliveira Rodrigues

Fernanda Polisseni

Gabriel Duque Pannain

Miralva Aurora Galvao Carvalho

Affiliations

Soon will be listed here.

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.

Citing Articles

Environmental and Genetic Traffic in the Journey from Sperm to Offspring.

Sengupta P, Dutta S, Liew F, Dhawan V, Das B, Mottola F Biomolecules. 2023; 13(12).

PMID: 38136630 PMC: 10741607. DOI: 10.3390/biom13121759.

Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia.

Zhang H, Li W, Jiang Y, Li J, Chen M, Wang R Front Genet. 2022; 13:872179.

PMID: 35495142 PMC: 9043847. DOI: 10.3389/fgene.2022.872179.

"That's Only for Women": The Importance of Educating HIV-Positive Sexual Minority Men on HPV and High Resolution Anoscopy (HRA).

Finneran C, Peretz J, Blemur D, Palefsky J, Flowers L J Int Assoc Provid AIDS Care. 2021; 20:23259582211016134.

PMID: 34056930 PMC: 8170352. DOI: 10.1177/23259582211016134.

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