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.