BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)

PURPOSE: To investigate the way carriers of a BRCA1/2 pathogenetic variant make their reproductive decisions and to examine the factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). METHODS: We conducted a comprehensive literature search in PubMe...

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Autores principales: Lombardi, Lucia, Trumello, Carmen, Stuppia, Liborio, Antonucci, Ivana, Brandão, Tânia, Babore, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9365893/
https://www.ncbi.nlm.nih.gov/pubmed/35661074
http://dx.doi.org/10.1007/s10815-022-02523-y
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author Lombardi, Lucia
Trumello, Carmen
Stuppia, Liborio
Antonucci, Ivana
Brandão, Tânia
Babore, Alessandra
author_facet Lombardi, Lucia
Trumello, Carmen
Stuppia, Liborio
Antonucci, Ivana
Brandão, Tânia
Babore, Alessandra
author_sort Lombardi, Lucia
collection PubMed
description PURPOSE: To investigate the way carriers of a BRCA1/2 pathogenetic variant make their reproductive decisions and to examine the factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). METHODS: We conducted a comprehensive literature search in PubMed, Scopus, and Web of Science in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method. RESULTS: A total of 16 articles published from 2000 to 2021 were included in this review. Data were overall collected from 3564 participants (86% females). Three important themes were identified across studies: changes in family planning, factors associated with family plans, and with acceptance or regret of PGD and PND. CONCLUSION: This review may contribute to the knowledge of the experience of those who have a BRCA1/2 mutation and want a child. These results may help genetic counselors and healthcare professionals that support people with a BRCA pathogenetic variant with reproductive issues.
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spelling pubmed-93658932022-08-12 BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) Lombardi, Lucia Trumello, Carmen Stuppia, Liborio Antonucci, Ivana Brandão, Tânia Babore, Alessandra J Assist Reprod Genet Review PURPOSE: To investigate the way carriers of a BRCA1/2 pathogenetic variant make their reproductive decisions and to examine the factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). METHODS: We conducted a comprehensive literature search in PubMed, Scopus, and Web of Science in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method. RESULTS: A total of 16 articles published from 2000 to 2021 were included in this review. Data were overall collected from 3564 participants (86% females). Three important themes were identified across studies: changes in family planning, factors associated with family plans, and with acceptance or regret of PGD and PND. CONCLUSION: This review may contribute to the knowledge of the experience of those who have a BRCA1/2 mutation and want a child. These results may help genetic counselors and healthcare professionals that support people with a BRCA pathogenetic variant with reproductive issues. Springer US 2022-06-04 2022-07 /pmc/articles/PMC9365893/ /pubmed/35661074 http://dx.doi.org/10.1007/s10815-022-02523-y Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Review
Lombardi, Lucia
Trumello, Carmen
Stuppia, Liborio
Antonucci, Ivana
Brandão, Tânia
Babore, Alessandra
BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)
title BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)
title_full BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)
title_fullStr BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)
title_full_unstemmed BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)
title_short BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)
title_sort brca1/2 pathogenetic variant carriers and reproductive decisions: gender differences and factors associated with the choice of preimplantation genetic diagnosis (pgd) and prenatal diagnosis (pnd)
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9365893/
https://www.ncbi.nlm.nih.gov/pubmed/35661074
http://dx.doi.org/10.1007/s10815-022-02523-y
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