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)

Abstract

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.

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes

“…An income-related difference was also reported by Rich et al (12% of patients with income below 20 K $ were aware of the technique, compared to 38% of those with 20-50 K and 22% for >100 K $) [1]. Based on these data, it could be hypothesized that information is more accessible to higher-income classes; however, according to the authors, the motivation can also be attributed to different approaches by physicians [1,42].…”

“…Regarding HBOC syndrome specifically, a review by Lombardi et al in 2022 confirmed higher levels of acceptability among male subjects [42]. Moreover, carrier status for HBOC syndrome correlated with a reduced desire for parenthood among female subjects, but not among male subjects.…”

“…In the investigation by Rich et al, religious patients were less favorable to the question of whether PGT should be offered compared to those who defined themselves as nonreligious (69% versus 89%) [1]. According to the review by Lombardi et al, two studies stated that religious beliefs did not influence the choice of resorting to assisted reproductive techniques [42]. Conversely, Menon et al found that women who had opted for PGT tended to be less religious [51].…”