Asha Nikesh Talati

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.

Objective: The purpose of this study was to evaluate the association between the type of insurance coverage and the uptake of prenatal genetic counseling and aneuploidy screening.Methods: This was a retrospective analysis of pregnant people who sought prenatal care at a quaternary medical system from August 1, 2017 to August 29, 2019. The primary exposure was insurance status, while the outcomes of interest were the uptake of genetic counseling and aneuploidy screening. Characteristics of the four insurance coverage groups were compared using simple comparisons and multivariable logistic regression models estimating odds of receiving genetic counseling and screening.Results: A total of 8774 births were included. There were significant differences among insurance groups in race, ethnicity, language, parity, and gestational age at the first visit. Pregnant people differed significantly by payer status with regard to the uptake of both counseling and aneuploidy screening. In adjusted models, those without insurance or who were self‐paid were significantly less likely to have genetic counseling and aneuploidy screening as compared to those with public or private insurance. In adjusted models, those who were older, spoke English, and were in their first pregnancy were significantly more likely to receive genetic counseling and aneuploidy screening.Conclusion: This analysis contributes to the understanding of how insurance mechanisms within the United States can contribute to the uptake of prenatal genetic counseling and screening. However, there is a complex interplay between payer status and other patient‐level characteristics such as age, language, and timing of initiation of prenatal care. Future studies that assess both system‐level and patient‐level characteristics are crucial.

Purpose: To describe psychological outcomes among people with recurrent anomalous pregnancies pursuing trio‐exome sequencing (exome sequencing (ES)) compared to those with one affected.Methods: We analyzed data from a prospective ES cohort, enrolling patients with major fetal anomaly and normal microarray. Participants completed validated scales before and after ES. We (1) compared responses of those with multiple anomalous pregnancies to those with one affected and (2) conducted linear regression to examine associations between multiple affected pregnancies and post‐ES constructs.Results: Of 166 trios, 61 (37%) received results from ES. Forty (24%) had more than one affected pregnancy and 45% of those received a result explaining the fetal phenotype. All participants had clinically significant presequencing generalized psychological distress. For the 93 who completed the post‐ES surveys, those with multiple affected pregnancies had higher psychological adaptation scores but worse test related distress scores (9.3 (6.2) versus 7.1(5.6), p = 0.12) and (14.3 (1.5) versus 15.4 (1.4), p = 0.01). In linear regression models, there were no significant differences in post‐ES constructs after adjusting for clinically relevant covariates.Conclusions: All individuals experienced significant generalized psychological distress in the pre‐ES period, extending our knowledge of how pregnancy history contributes to parental sequencing outcomes.