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

Prenatal Genetics
  • Primary Categories:
    • Prenatal Genetics
  • Secondary Categories:
    • Prenatal Genetics
Introduction:
Trio exome sequencing has recently been introduced into the prenatal diagnostic algorithm. However, little is known about how this testing impacts future reproductive decision making. The objective of this study is to determine how trio-exome sequencing (t-ES) in an incident pregnancy (IP) impacts reproductive decision making. 

Methods:
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. All patients had multiple fetal anomaly phenotypes. One had diagnostic findings that explain the fetal phenotype. Fourteen of fifteen DNA samples were obtained through amniotic fluid; 1 was obtained through cord blood. One patient had findings of t-ES that explained 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).

 

Interviews identified several key themes including: (1) “Knowledge is power” – participants valued genetic testing to guide future pregnancy decisions. For instance, participant 8 stated the following related to how knowledge could change her clinical course: “We really were searching for answers to what happened with our son. This was a cornerstone of whether we were going to try again, because if (t-ES) came back with anything, we both said we're not going to do this again.” (2) “whiplash” – participants described how the significant medical complexity of the pregnancy felt incongruent with negative t-ES results, with many participants using the word ‘whiplash’ to describe simultaneous relief and grief. Participant 9 stated: “It was such a weird feeling because I was so relieved, but then I was so mad that I had no answers why this happened. (3) “Confidence moving forward” – participants described how t-ES results, even if negative, provided confidence with future pregnancy. Participant 13 stated: “I remember feeling relieved knowing that this probably will not happen to me again…I was ten weeks pregnant with my son at the time.” (4) “Genetic counseling as an anchor” – participants describe the importance of genetic counseling to interpret results and guide subsequent pregnancies and prospective testing decisions. Participant 1 stated: “with genetic counseling, I really felt very well taken care of. [The genetic counselor ] reached out a couple times through the portal to keep going over things.”

Conclusion:
Participants using t-ES expressed value in this testing strategy paired with genetic counseling and used results to guide future pregnancy decisions. Even negative results, despite bringing forward complex emotions, provided value in making patients feel more comfortable with subsequent pregnancy decisions. This study demonstrates the value of t-ES beyond the IP.

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