Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.

Authors

Catherine G Kernie
Julia Wynn
Allison Rosenbaum
Jessica de Voest
Stephanie Galloway
Jessica Giordano
Samantha Stover
Lauren Westerfield
Kelly Gilmore
Ronald J Wapner
Ignatia B Van den Veyver
Neeta L Vora
Rebecca G Clifton
Aaron B Caughey
Wendy K Chung

Publication Date

6-1-2022

Journal

Prenatal Diagnosis

DOI

10.1002/pd.6153

PMID

35476893

PMCID

PMC11561471

PubMedCentral® Posted Date

11-14-2024

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes

Keywords

Anxiety, Attitude, Female, Fetus, Genomics, Humans, Pregnancy

Abstract

OBJECTIVE: This study sought to evaluate the experiences of individuals who chose to participate in a study and receive prenatal genomic sequencing (pGS) for fetuses with congenital structural anomalies.

METHOD: Individuals who received research results of prenatal sequencing were invited to participate in semi-structured interviews about their experiences. A constructivist grounded theory approach was used to code and analyze interviews.

RESULTS: Thirty-three participants from 27 pregnancies were interviewed. Participants were motivated to enroll in the study to find out more about their fetus' condition and prepare for the future. The waiting period was a time of significant anxiety for participants. Most participants felt relief and closure upon receiving results, regardless of the category of result, and had a clear understanding of the implications of the results.

CONCLUSION: Participants' experiences with pGS were often intertwined with the experience of having a fetus with an abnormality. Participants were satisfied with the decision to participate in research and the support they received from the healthcare team, although waiting for results was associated with anxiety. The healthcare team plays an integral role in setting expectations and validating feelings of anxiety, fear and uncertainty.