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Knowledge, acceptability and personal attitude regarding preimplantation genetic testing and prenatal diagnosis for females carrying BRCA mutation
Mémoire de Master / Thèse d'exercice   Open Access

Knowledge, acceptability and personal attitude regarding preimplantation genetic testing and prenatal diagnosis for females carrying BRCA mutation

Traicie Dervin
Masters , Université de Montpellier
10/10/2022

Résumé

Breast cancer BRCA mutation Preimplantation genetic testing for monogenic disorders (PGT-M) Cancer du sein Mutation BRCA Prenatal diagnosis (PND) Fertility preservation (FP) Diagnostic prénatal (DPN) Diagnostic préimplantatoire (DPI) Préservation de la fertilité
Research question: to explore the acceptability and attitudes toward preimplantation testing for monogenic disorders (PGT-M) and prenatal diagnosis (PND) of BRCA mutation carriers, and to identify predictive factors toward these two options. Secondary analysis was led in the specific subgroup of patients who previously achieved fertility preservation (FP) versus those that did not.Design: participants were mainly recruited through “BRCA France” association (19.5%, n=17) and the databases of two French hospitals (75.9%, n= 66). They responded to an anonymous online survey of 49 questions between June and August 2022. Results: among our cohort of 87 responders, 66.7% had a personal history of breast or ovarian cancer and the same number had performed FP. Approximately half of the study population had children. Most of the cohort thought that PGT-M must be proposed regardless of family history’s severity (86.2 %, n=75), almost half of the respondents (47.1%, n=41) had a positive personal attitude concerning PGT-M for their mutation and would consider it personally. Regarding PND, the acceptability and positive attitude rates were 66.7% (n=58) and 28.9% (n=26), respectively. We did not find predictive factors for acceptability or positive attitude toward PGT-M or PND. In the specific subgroup of previous FP, acceptability, and personal attitude toward PGT-M and PND were not significantly different as compared to respondents without a personal history of FP.Conclusion: PGT-M and PND are often accepted and considered by carriers of BRCA mutation. We did not find predictive factors of acceptability andpositive attitude, and there was no significative difference in the specific subgroup of carriers who had already performed a FP. Key message: PGT-M and PND are often accepted regardless of family history’s severity and are considered personally by carriers of BRCA mutation. In the specific subgroup of FP, we found no significative difference as compared to respondents without FP. Further studies must be performed to determine if FP could promote PGT-M.

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