The Value of Integrating Adult Genetic Services Into Pregnancy Care: Changing Fetal, Neonatal, and Maternal Management

ABSTRACT Adult patients with known or suspected genetic diagnoses face unique challenges in accessing care that informs pregnancy management and reproductive decision‐making. To address this gap, we established an Adult Genetics & Reproductive Health Clinic (AGRH). We conducted a retrospective study of 112 patients evaluated between July 2022 and September 2025. Demographics, referral characteristics, genetic testing, and effects of testing on maternal, fetal, pregnancy care, and familial care were reviewed. Fifty‐nine patients (53%) were seen preconception and 53 (47%) during pregnancy. Seventy‐five patients (67%) were offered diagnostic genetic testing; 58 (77%) completed testing and 17 (23%) declined. Among the 58 patients completing testing, 20 (35%) received a diagnostic result, including 10 new molecular diagnoses and 10 results confirming a suspected or established clinical diagnosis; two additional patients had incidental findings. Thirty‐six patients (62%) had negative results, including 11 informative negative results that excluded the suspected condition and informed care. Overall, 33 of 58 patients (56.9%) had results that informed clinical care through a new or confirmed diagnosis, incidental finding, or informative negative result. Integration of adult genetic evaluation into reproductive healthcare frequently informs pregnancy management, reproductive planning, and familial care.