Fertility desires and outcomes in patients with selected hereditary cancer syndromes

Objective: Limited data exist on pregnancy desires, outcomes, or referral rates in patients with gynecologic hereditary cancer syndromes. This study describes fertility desires and pregnancy outcomes in patients with newly diagnosed BRCA1, BRCA2, MLH1, and MSH2 mutations. Methods: This was a multi-site, retrospective cohort study including women aged 21-45 years old diagnosed with a pathogenic variant in BRCA1, BRCA2, MLH1, or MSH2 between January 2018 and December 2021. Women with prior sterilization procedures, bilateral salpingectomy, hysterectomy, or prior diagnosis of breast or ovarian cancer were excluded. Clinical and demographic variables were extracted from the medical record. The primary outcome was assessment of pregnancy desires. Secondary outcomes included rate of pregnancy and live birth, referral to REI or use of assisted reproductive technology (ART). Results: We identified 396 patients with positive genetic testing during the study period. BRCA2 (n = 200, 51%) and BRCA1 (n = 173, 44%) mutations were the most common. Median age at diagnosis was 31.5 (27-38) years old with most women being non-Hispanic white (53.2%) and nulliparous (n = 216, 55%). In the cohort, 38.1% of women desired future fertility at the time of diagnosis, 31.3% had completed childbearing, and fertility desires were not documented in 30.6%. There were 65 pregnancies. Parity and age 25-34 years was associated with achieving pregnancy. Even in patients desiring future fertility, rates of referral to REI (17%) and use of ART (8%) were low. Conclusion: Our findings demonstrate possible gaps in counseling and underutilization of fertility services for young mutation carriers.