Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Utah 84108, USA.
Curr Opin Pediatr. 2012 Dec;24(6):672-8. doi: 10.1097/MOP.0b013e3283595031.
At the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers face difficult and challenging decisions regarding management. Because of the increased infant mortality and developmental outcome associated with both conditions, the conventional approach to management has been to withhold technological support. In recent years, an active dialogue on this topic has emerged. The purpose of this review is to summarize the literature on the outcome of infants with trisomy 18 and 13 and to discuss the key themes in this emerging dialogue.
In recent years, several important studies have appeared that have analyzed the issues relevant to this topic, including parental autonomy, best interest of the child standard, and quality of life. Some authorities state that in areas of ambiguity it is best to defer to parents' views, whereas others indicate concern that the best interest standard has given way to parental autonomy. Information on the actual experience of parents of children with trisomy 18 and 13 has been limited until recently.
The author recommends a balanced approach to counseling families of the newborn with trisomy 18 and 13 at the time of diagnosis. The counseling process should include presentation of accurate survival figures, avoidance of language that assumes outcome, communication of developmental outcome that does not presuppose perception of quality of life, and respect for the family's choice, whether it be comfort care or intervention.
在诊断 18 三体和 13 三体时，父母和护理人员面临着有关管理的困难和具有挑战性的决策。由于这两种情况都与婴儿死亡率和发育结果增加有关，因此传统的管理方法是不提供技术支持。近年来，关于这个话题的积极对话已经出现。本综述的目的是总结关于 18 三体和 13 三体婴儿结局的文献，并讨论这一新兴对话中的关键主题。
近年来，出现了几项重要的研究，分析了与这一主题相关的问题，包括父母自主权、儿童最佳利益标准和生活质量。一些权威机构表示，在存在模糊性的领域，最好听从父母的意见，而另一些机构则担心最佳利益标准已经让位于父母自主权。直到最近，关于 18 三体和 13 三体患儿父母实际经历的信息才有限。
作者建议在诊断新生儿 18 三体和 13 三体时，对其家庭进行平衡的咨询。咨询过程应包括准确的生存数据、避免使用假设结果的语言、传达不预设生活质量的发育结果，并尊重家庭的选择，无论是舒适护理还是干预。
