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

IF 2.4 3区医学 Q2 OBSTETRICS & GYNECOLOGY

Journal of Perinatology Pub Date : 2025-09-18 DOI:10.1038/s41372-025-02392-0

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

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引用次数: 0

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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目前18三体先天性心脏病的产前咨询，儿科心脏病专家的观点：胎儿心脏学会研究合作研究。

目的：随着心脏疾病在婴儿期修复，18三体患者的生存结果正在发生变化，这让人想起21三体。与心脏病和18三体相关的产前咨询的前景尚不清楚。研究设计：向儿科心脏病专家分发了一项调查，显示了两种因基因诊断而不同的心脏病情况：18三体和21三体。受访者被问及是否会提供心脏手术，并对各种因素在决策中的重要性进行排名。结果：63%的18三体患者认为手术是一种选择，而21三体患者认为手术是97%。与21三体的新生儿存活率相比，基因诊断在18三体中最为重要。与21三体的遗传诊断相比，18三体的生活质量和出院存活率最低。结论：18三体的产前咨询存在显著差异。优柔寡断可能受到遗传诊断、生存和生活质量的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Perinatology 医学-妇产科学

CiteScore

5.40

自引率

6.90%

发文量

284

审稿时长

3-8 weeks

期刊介绍： The Journal of Perinatology provides members of the perinatal/neonatal healthcare team with original information pertinent to improving maternal/fetal and neonatal care. We publish peer-reviewed clinical research articles, state-of-the art reviews, comments, quality improvement reports, and letters to the editor. Articles published in the Journal of Perinatology embrace the full scope of the specialty, including clinical, professional, political, administrative and educational aspects. The Journal also explores legal and ethical issues, neonatal technology and product development. The Journal’s audience includes all those that participate in perinatal/neonatal care, including, but not limited to neonatologists, perinatologists, perinatal epidemiologists, pediatricians and pediatric subspecialists, surgeons, neonatal and perinatal nurses, respiratory therapists, pharmacists, social workers, dieticians, speech and hearing experts, other allied health professionals, as well as subspecialists who participate in patient care including radiologists, laboratory medicine and pathologists.