18三体综合征先天性心脏病的当前产前咨询：儿科心脏病专家的观点：胎儿心脏协会研究协作研究
Current prenatal counseling of congenital heart disease in trisomy 18, pediatric cardiologists' perspective: a Fetal Heart Society Research Collaborative Study.
作者信息
Kosiv Katherine A, Wong Bob G, Anderson Rebecca A, Carey John C
机构信息
Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA.
College of Nursing, University of Utah, Salt Lake City, UT, USA.
出版信息
J Perinatol. 2025 Sep 18. doi: 10.1038/s41372-025-02392-0.
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.
目的
随着婴儿期心脏病得到修复，18三体综合征的生存结局正在发生变化，这与21三体综合征类似。与心脏病和18三体综合征相关的产前咨询情况尚不清楚。
研究设计
向儿科心脏病专家发放了一份调查问卷，呈现了两种因基因诊断而异的心脏病病例：18三体综合征与21三体综合征。询问受访者是否会提供心脏手术，并对决策中各种因素的重要性进行排序。
结果
63%的受访者表示手术是18三体综合征的一种选择，而21三体综合征的这一比例为97%。与21三体综合征中新生儿生存情况相比，基因诊断在18三体综合征中最为重要。与21三体综合征中基因诊断相比，生活质量和出院存活率在18三体综合征中最不重要。
结论
18三体综合征的产前咨询存在显著差异。犹豫不决可能受基因诊断、生存情况和生活质量的影响。
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