A Qualitative Study of Parental Decision-Making Following a Prenatal Diagnosis of Turner Syndrome: "How Serious Is This?"
10 affiliations
- 1Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
- 2Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
- 3Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
- 4Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.
- 5Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.
- 6DEFACTUM - Public Health Research, Central Denmark Region, Aarhus, Denmark.
- 7Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
- 8International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
- 9Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
- 10Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Abstract
A prenatal diagnosis of Turner syndrome (TS) presents expectant parents with complex and emotionally demanding decisions under conditions of uncertainty. However, there is limited insight into how parents interpret and integrate medical information, personal experiences, and values during this process. This qualitative study explores how parents who chose to continue a pregnancy following a prenatal TS diagnosis experienced and navigated decision-making. The study was conducted within the Danish healthcare system between September 2024 and October 2025. During this period, we conducted 12 semi-structured interviews with 19 parents of girls diagnosed prenatally with TS (seven joint interviews with both parents and five interviews with the mother only). Interviews were audio-recorded, transcribed verbatim, and analyzed using reflexive thematic analysis. Across interviews, parents repeatedly returned to the question, "How serious is this?", and our analysis showed that decision-making unfolded as a dynamic, evolving process rather than a single point of choice. This process was captured through five interrelated themes: The crisis of diagnosis; What parents bring into decision-making; Contrasting images of Turner syndrome; What kind of life is possible?; and The turning point. These themes illustrate how assessments of seriousness were shaped through an interplay of prior experiences, emerging attachment to the fetus, ultrasound findings, counseling encounters, and social responses. Over time, parents developed a more coherent understanding of the diagnosis, culminating in the decision to continue the pregnancy. In this way, decision-making following a prenatal TS diagnosis extended beyond the evaluation of medical information and involved substantial interpretative and emotional work. Clinical encounters were most meaningful when information was contextualized and aligned with parents' concerns about everyday life and future possibilities. These findings reinforce the importance of prenatal counseling that integrates medical information with support for the interpretative and emotional work through which parents make sense of the diagnosis and navigate uncertainty.
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BibTeX
@article{dorf2026qualitative,
title = {{A Qualitative Study of Parental Decision-Making Following a Prenatal Diagnosis of Turner Syndrome: "How Serious Is This?"}},
author = {Inger Lily Hjuler Dorf and Stina Lou and Christine Manich Bech Baggesgaard and Rune W Naeraa and Casper P Hagen and Anne Skakkebæk},
journal = {Journal of genetic counseling},
year = {2026},
month = oct,
doi = {10.1002/jgc4.70298},
url = {https://europepmc.org/article/MED/42852687},
note = {CC BY},
}
RIS
TY - JOUR
TI - A Qualitative Study of Parental Decision-Making Following a Prenatal Diagnosis of Turner Syndrome: "How Serious Is This?"
AU - Inger Lily Hjuler Dorf
AU - Stina Lou
AU - Christine Manich Bech Baggesgaard
AU - Rune W Naeraa
AU - Casper P Hagen
AU - Anne Skakkebæk
PY - 2026
DA - 2026/10/01
JO - Journal of genetic counseling
DO - 10.1002/jgc4.70298
UR - https://europepmc.org/article/MED/42852687
AB - A prenatal diagnosis of Turner syndrome (TS) presents expectant parents with complex and emotionally demanding decisions under conditions of uncertainty. However, there is limited insight into how parents interpret and integrate medical information, personal experiences, and values during this process. This qualitative study explores how parents who chose to continue a pregnancy following a prenatal TS diagnosis experienced and navigated decision-making. The study was conducted within the Danish healthcare system between September 2024 and October 2025. During this period, we conducted 12 semi-structured interviews with 19 parents of girls diagnosed prenatally with TS (seven joint interviews with both parents and five interviews with the mother only). Interviews were audio-recorded, transcribed verbatim, and analyzed using reflexive thematic analysis. Across interviews, parents repeatedly returned to the question, "How serious is this?", and our analysis showed that decision-making unfolded as a dynamic, evolving process rather than a single point of choice. This process was captured through five interrelated themes: The crisis of diagnosis; What parents bring into decision-making; Contrasting images of Turner syndrome; What kind of life is possible?; and The turning point. These themes illustrate how assessments of seriousness were shaped through an interplay of prior experiences, emerging attachment to the fetus, ultrasound findings, counseling encounters, and social responses. Over time, parents developed a more coherent understanding of the diagnosis, culminating in the decision to continue the pregnancy. In this way, decision-making following a prenatal TS diagnosis extended beyond the evaluation of medical information and involved substantial interpretative and emotional work. Clinical encounters were most meaningful when information was contextualized and aligned with parents' concerns about everyday life and future possibilities. These findings reinforce the importance of prenatal counseling that integrates medical information with support for the interpretative and emotional work through which parents make sense of the diagnosis and navigate uncertainty.
SN - 1059-7700
SN - 1573-3599
ER -