(135) Impact of Prenatal Trio-Exome Sequencing on Future Reproductive Decisions: A Qualitative Study

Thursday, January 30, 2025

10:30 AM – 12:30 PM

Submitting Author and Presenting Author(s)

Asha N. Talati, MD, MSCR (she/her/hers)

Assistant Professor
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States

Coauthor(s)

KG

Kelly L. Gilmore, MS

Instructor, Department of Obstetrics & Gynecology
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States
AL

Anne Lyerly, MD

Professor
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States
MM

Marsha Michie, PhD

Case Western Reserve University
Cleveland, Ohio, United States
Neeta L. Vora, MD

Associate Professor
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States

Objective: o determine how trio-exome sequencing (t-ES) in an incident pregnancy (IP) impacts reproductive decision making.

Study Design: Qualitative study of individuals from a t-ES cohort that had a pregnancy with ultrasound-detected fetal anomalies (fetal brain anomalies and/or multiple anomalies) and negative karyotype (K) and microarray (CMA) in an IP. Participants had t-ES 12-30 months prior to interview. Interviewer was blinded to IP history and t-ES results. One-on-one semi-structured interviews were completed, recorded and transcribed. Interview domains included adaptation of t-ES results, perceived value of testing at current time point, and future pregnancy decisions. Interviews were analyzed using grounded theory methods and sampling was completed after theme saturation was achieved.

Results: 15 interviews were completed. Mean age was 31. Eleven (73%) self-identified as non-Hispanic, White. Fourteen (93%) had at least a college education and all were employed. One had diagnostic findings that explain the fetal phenotype. Eight (53%) had subsequent pregnancies; of those, 100% used some form of genetic screening or testing (3 used cell free DNA (cfDNA), 2 used preimplantation genetic testing (PGT-A, PGT-M), 3 had amniocentesis for K and CMA) (Table 1). Key themes identified include: (1) “Knowledge is power” – participants valued genetic testing to guide future pregnancy decisions; (2) “Whiplash” – participants described how medical and psychological complexity of the IP felt incongruent with receiving negative t-ES results; (3) “Confidence moving forward” – participants described how t-ES results, even if negative, provided confidence with future pregnancy; (4) “value of genetic counseling” – participants describe the importance of genetic counseling to interpret results and guide subsequent pregnancies and prospective testing decisions.

Conclusion:

Participants using t-ES expressed value in this testing strategy paired with genetic counseling and used results for future pregnancy decisions despite majority negative results.