Reproductive Decision‐Making Among BRCA1/2 Pathogenic Variants Carriers and Physicians: Attitudes Toward Preimplantation and Prenatal Genetic Testing

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OBJECTIVE: The objective of this paper is to investigate the knowledge and attitudes of BRCA1/2 pathogenic variant carriers and gynecologists regarding preimplantation genetic tests for monogenic diseases (PGT-M) and prenatal diagnosis (PND). METHODS: A survey using structured questionnaires was completed by 89 BRCA1/2 carriers and 37 gynecologists, assessing awareness, attitudes, and ethical concerns. RESULTS: Before receiving information, only 28% of carriers were aware of PGT-Mand PND. Once informed, the majority believed that these options should be discussed with all BRCA mutation carriers as part of standard reproductive counseling (87.6% for PGT-M and 85.7% for PND). Many indicated a willingness to consider their use. Nonetheless, concerns remained, particularly regarding hormonal stimulation, pregnancy termination, and ethical implications. Among gynecologists, awareness of PGT-M and PND as options for BRCA carriers was inconsistent (45.9% and 51.4%, respectively), and few routinely discussed these options with patients. Ethical concerns were common, and 86.5% of clinicians expressed the need for clearer guidelines and multidisciplinary collaboration. CONCLUSION: The findings reveal a discrepancy between reproductive preferences of BRCA mutation carriers and current practices and knowledge among healthcare professionals. Bridging this gap will require educational efforts, development of guidelines, and a multidisciplinary approach to reproductive counseling in the context of hereditary cancer risk.

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