To study the attitude of BRCA1/2 mutation carriers regarding family planning, fertility preservation, and preimplantation genetic testing (PGT).

A national cross-sectional study was conducted by the distribution of an anonymous questionnaire, from August 2022 to January 2023. The main outcomes measures were discussion, acceptance, and performance rates of fertility preservation and PGT.

The questionnaire was completed by 530 BRCA1/2 mutation carriers. The mean (SD) age at mutation detection was 36.4 (9.6) years. At the time of mutation detection, 40% did not have children. Following mutation detection, 37% of responders changed their family planning, mostly choosing to have children earlier or to have less children than planned. Twenty-eight percent of BRCA carriers discussed the option of fertility preservation with a physician, 72% agreed that fertility preservation is an acceptable option for BRCA1/2 mutation carriers and finally 11% underwent oocyte/embryo vitrification before RRBSO. 44% of BRCA carriers discussed the option of PGT, 58% agreed that PGT is justified in BRCA1/2 mutation carriers and finally 8% underwent PGT to select non-carrier embryos. In a multivariate analysis, age under 35 years and the a priori need for fertility treatments were both found significant factors increasing the likelihood of performing fertility preservation and PGT.

This study emphasizes that despite a substantial proportion of women admitting that mutation detection affected their family planning and high acceptance rates, performance of fertility preservation and PGT remained exceedingly low. Increasing the knowledge and awareness of these issues is important and should be included in multidisciplinary counselling.