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Objective <p>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.</p> Study design <p>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.</p> Result <p>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.</p> Conclusion <p>Significant variability in prenatal counseling exists for trisomy 18. Indecision may be influenced by the genetic diagnosis, survival, and quality of life.</p>

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

  • 期刊论文

  • 发表日期：

    2025年9月18日

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  • Katherine A. Kosiv,
  • Bob G. Wong,
  • Rebecca A. Anderson,
  • John C. Carey

摘要

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.