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18 三体和 13 三体综合征患儿的管理:是否存在治疗模式的转变?

Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care?

机构信息

Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah.

出版信息

Am J Perinatol. 2021 Sep;38(11):1122-1125. doi: 10.1055/s-0041-1732363. Epub 2021 Jul 26.

Abstract

OBJECTIVE

The conventional view toward the management of infants with the trisomy 18 and trisomy 13 syndromes has been to recommend pure comfort care and the avoidance of technological interventions. This commentary aims to address the recently raised question about whether there has been a shift in the paradigm of the management of infants with the two conditions.

STUDY DESIGN

The study design includes narrative review of the literature.

RESULTS

A body of opinion pieces and evidence has emerged indicating that there has been a recent increase in the administration of interventions, including ventilatory support and surgery, in the management of children with these syndromes.

CONCLUSION

Based on the evidence in the literature, the author concludes that there has been a type of paradigm shift described by philosopher of science, Thomas Kuhn, in the treatment of infants with trisomy 18 and 13. More parents are being offered and choosing technological interventions, including cardiac surgery. Future investigation of the question whether intervention improves outcome, including the quality of life, is crucial in addressing the unanswered questions in this dialogue.

KEY POINTS

· The conventional approach to the treatment of trisomy 18 and 13 has been to avoid interventions.. · There is a growing body of evidence that this traditional view of management is changing.. · Future investigation of whether intervention improves outcome is crucial in addressing the unanswered questions..

摘要

目的

对于患有 18 三体综合征和 13 三体综合征的婴儿,传统的治疗方法是建议进行纯舒适护理,并避免使用技术干预。本评论旨在探讨最近提出的一个问题,即这两种疾病的治疗模式是否已经发生转变。

研究设计

研究设计包括对文献的叙述性回顾。

结果

出现了一系列观点文章和证据,表明最近在这两种综合征患儿的管理中,增加了包括通气支持和手术在内的干预措施的应用。

结论

基于文献中的证据,作者得出结论,在治疗 18 三体和 13 三体的婴儿方面,已经发生了一种由科学哲学家托马斯·库恩描述的范式转变。越来越多的父母被提供并选择技术干预,包括心脏手术。未来对干预是否能改善结局(包括生活质量)的研究,对于解决这一对话中未回答的问题至关重要。

关键点

· 治疗 18 三体和 13 三体的传统方法是避免干预。· 越来越多的证据表明,这种传统的管理观点正在发生变化。· 未来对干预是否能改善结局的研究,对于解决这一对话中未回答的问题至关重要。

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