A retrospective case-control study of in vitro fertilization in patients with BRCA1/2 mutation

To evaluate IVF outcomes with pre-implantation genetic testing for monogenic disorders (PGT-M) for patients with BRCA1/2 mutations compared to patients utilizing PGT for other reasons. This retrospective case-control study compared patients undergoing IVF/PGT-M for BRCA1/2 mutations to control cohorts, either undergoing IVF for male/tubal infertility with elective PGT-A or PGT-M for other genetic conditions. The primary outcome was time to first live birth, indexed by IVF cycle number and analyzed using time-to-event methods with right censoring. Secondary outcomes included embryology yield, number of IVF cycles required to achieve live birth among those who succeeded, and live birth per initiated IVF cycle. Among 195 patients (45 BRCA1/2 PGT-M, 60 non-BRCA PGT-M, and 90 PGT-A), number of oocytes retrieved, blastocyst yield, and embryo maturation did not differ significantly across cohorts. BRCA carriers required more cycles to achieve live birth compared with the PGT-A cohort, but comparable cycles compared to non-BRCA PGT-M patients. Time-to-event analyses demonstrated no significant difference in time to live birth across cohorts (log-rank P = 0.71). Patients undergoing PGT-M, including BRCA carriers, experience greater cumulative IVF cycle burden. However, the per cycle and per transfer probability of achieving a live birth was similar across indications, supporting reassuring counseling for BRCA carriers pursing IVF/PGT-M.