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

当前针对18三体综合征先天性心脏病的产前咨询:儿科心脏病专家的视角——胎儿心脏协会研究合作研究

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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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