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 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.

Automated summary

This study used a comprehensive literature search to investigate the reproductive decisions of carriers with a BRCA1/2 pathogenetic variant and examine the factors associated with the choice of PGD and PND. The results identified three important themes: changes in family planning, factors associated with family plans, and acceptance or regret of PGD and PND. The findings contribute to the understanding of the experiences of individuals with a BRCA1/2 mutation and reproductive desires, providing guidance to genetic counselors and healthcare professionals in addressing reproductive issues.