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Current prenatal counseling of congenital heart disease in trisomy 18, pediatric cardiologists’ perspective: a Fetal Heart Society Research Collaborative Study

Journal of Perinatology (2025)Cite this article

Subjects

Abstract

Objective

Survival outcomes are shifting in trisomy 18 as cardiac disease is being repaired in infancy reminiscent of trisomy 21. The landscape of prenatal counseling related to cardiac disease and trisomy 18 is unknown.

Study design

A survey was distributed to pediatric cardiologists presenting two scenarios of cardiac disease varying by genetic diagnosis: trisomy 18 vs 21. Respondents were asked if cardiac surgery would be offered and ranked the importance of various factors in decision-making.

Result

Sixty three percent described surgery as an option in trisomy 18 compared to 97% in trisomy 21. Genetic diagnosis was most important in trisomy 18 compared to neonatal survival in trisomy 21. Quality of life and survival to discharge were least important in trisomy 18 compared to genetic diagnosis in trisomy 21.

Conclusion

Significant variability in prenatal counseling exists for trisomy 18. Indecision may be influenced by the genetic diagnosis, survival, and quality of life.

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Fig. 1: Variation in the prenatal counseling of post-natal surgery.
Fig. 2: Impact of factors on prenatal counseling.
Fig. 3: Lesions not recommended for surgical repair in trisomy 18.

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Data availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

The authors would like to thank the Institutional Sponsors of the nonprofit 501(c)(3) Fetal Heart Society and the Utah Center for Excellence in ELSI Research. A full list of Fetal Heart Society sponsors is available at: https://fetalheartsociety.org/donations/institutional-sponsors/.

Funding

UCEER Pilot Fund.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA

    Katherine A. Kosiv

  2. College of Nursing, University of Utah, Salt Lake City, UT, USA

    Bob G. Wong

  3. Department of Philosophy, University of Utah, Salt Lake City, UT, USA

    Rebecca A. Anderson

  4. Department of Pediatrics, University of Utah- School of Medicine, Salt Lake City, UT, USA

    John C. Carey

Authors
  1. Katherine A. Kosiv
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  2. Bob G. Wong
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  3. Rebecca A. Anderson
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  4. John C. Carey
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Contributions

KK conceived the project, designed of the survey instrument, interpreted the analysis and prepared tables, and drafted the initial manuscript; BW advised on the study, assisted with the design of the survey instrument, conducted the analysis, and created figures, and critically reviewed and revised the manuscript; RA advised on the study, assisted with the design of the survey instrument, and critically reviewed and revised the manuscript; JC conceived the project, assisted with the design of the survey instrument, interpreted the analysis, and critically reviewed and revised the manuscript; and all authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work. KK has full access to the study data and final responsibility for the decision to submit for publication.

Corresponding author

Correspondence to Katherine A. Kosiv.

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Competing interests

KAK and JCC both serve as physician advisors to the Support Organization for Trisomy (SOFT), a parent support group. KAK serves on the steering committee and JCC serves on the executive committee for the Trisomy 13 and 18 Collaborative, which is philanthropic initiative to support families impacted by trisomy 13 and 18 and promote shared decision-making.

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Kosiv, K.A., Wong, B.G., Anderson, R.A. et al. Current prenatal counseling of congenital heart disease in trisomy 18, pediatric cardiologists’ perspective: a Fetal Heart Society Research Collaborative Study. J Perinatol (2025). https://doi.org/10.1038/s41372-025-02392-0

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  • DOI: https://doi.org/10.1038/s41372-025-02392-0

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