The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies
The reasons individuals declined pGS included medical and emotional risks of testing and an understanding of potential results and their utility. To address these concerns, pretest genetic counseling should include the probability of diagnostic results, impact of prenatal/perinatal management, consideration of uncertain results, privacy concerns, and benefits and limitations of postnatal testing. Non-invasive prenatal sequencing, currently under investigation in research settings, may be an alternative future option, but will not address all concerns. Given that our cohort was small and homogenous, lacked cost burden, excluded terminated pregnancies, and included no postnatal genetic diagnoses, further research is needed to confirm that these findings are generalizable.
Authors
- Aaron B. Caughey (ORCID: https://orcid.org/0000-0002-1752-0972)
- Daniel T. Swarr (ORCID: https://orcid.org/0000-0002-7305-0442)
- Grant Bonesteele (ORCID: https://orcid.org/0000-0003-3711-1778)
- Stephanie Galloway
- Wendy K. Chung (ORCID: https://orcid.org/0000-0003-3438-5685)
- Leandra Tolusso (ORCID: https://orcid.org/0000-0002-2173-2134)
- Neeta L. Vora (ORCID: https://orcid.org/0000-0002-2504-9455)
- Samantha Stover (ORCID: https://orcid.org/0009-0006-9385-1251)
- Ronald J. Wapner (ORCID: https://orcid.org/0000-0003-0727-1244)
- Lauren E. Westerfield (ORCID: https://orcid.org/0000-0002-0878-6808)
- Jessica de Voest (ORCID: https://orcid.org/0009-0007-8629-874X)
- Jessica L. Giordano (ORCID: https://orcid.org/0000-0002-2265-0691)
- Allison Rosenbaum (ORCID: https://orcid.org/0000-0003-3687-2786)
- Anthony Johnson (ORCID: https://orcid.org/0000-0002-4450-1275)
- Rebecca G. Clifton
- Kelly L. Gilmore (ORCID: https://orcid.org/0000-0002-9125-8714)
- Ignatia B. Van den Veyver (ORCID: https://orcid.org/0000-0002-0651-5924)
- Lisa Weingarten (ORCID: https://orcid.org/0009-0003-2890-0983)
- A. Theresa Wittman (ORCID: https://orcid.org/0009-0006-5886-7784)
- Nancy Leslie
- B K Wong (ORCID: https://orcid.org/0009-0006-0398-8685)
Institutions
- University of North Carolina at Chapel Hill (US)
- Cincinnati Children's Hospital Medical Center (US)
- Boston Children's Hospital (US)
- Harvard University (US)
- Oregon Health & Science University (US)
- Baylor College of Medicine (US)
- George Washington University (US)
- Columbia University Irving Medical Center (US)
- Texas Children's Hospital (US)
- The University of Texas Health Science Center (US)
- University of Cincinnati (US)
- Columbia University (US)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-12-03
- DOI
- https://doi.org/10.1002/pd.70034
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute of Child Health and Human Development