Genome Sequencing for All Pregnant Persons: Navigating the Next Frontier in Prenatal Diagnosis Through Patient Reflections.

Objective: This study aimed to explore participant reflections after receipt of prenatal genome sequencing (GS) results in the absence of fetal anomalies.

Methods: Participants invited to complete a semi-structured interview consented to future research, were English speaking, and were between 30 days and 1 year since the conclusion of their sequenced pregnancy. A total of 18 interviews were conducted with 21 participants (3 couples interviewed concurrently) representing 15 unique pregnancies (81% term deliveries, 14% terminated pregnancies, and 5% preterm delivery). Interviews were transcribed, coded, and analyzed using a constructivist grounded theory approach.

Results: Participants had various motivations for pursuing GS, yet all wanted maximal information. Almost all participants with positive results had downstream implications, including termination, cascade testing, referral to specialists, and changes in pregnancy management and neonatal care. Negative results provided reassurance for the pregnancy and child's early development. If available, most participants would pursue GS in a future pregnancy; however, a few raised concerns about cost and accessibility.

Conclusion: Understanding the perspectives and needs of pregnant patients and their partners will help inform the implementation of GS as a first-tier prenatal diagnostic test.