Suppr超能文献

[作为预测性基因检测的新生儿筛查:原则与挑战]

[Newborn screening as a predictive genetic test: principles and challenges].

作者信息

Zschocke Johannes

机构信息

Division für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Austria.

出版信息

Wien Med Wochenschr. 2012 Apr;162(7-8):168-75. doi: 10.1007/s10354-012-0062-7. Epub 2012 Mar 28.

Abstract

Universal newborn screening for a range of mostly inherited metabolic and endocrine disorders, started in mid-1960ies, is a success story of preventive medicine. New technological advances particularly in the last 10-15 years have led to an expansion of newborn screening in many countries. This has allowed introduction of sometimes life-saving preventive measures in more children, but it has also become more obvious that screening may not be prudent for all conditions in which it is technically feasible. The present article provides criteria that have been used or discussed for the inclusion of "new" disorders in newborn screening programs, and highlights exemplary metabolic disorders that illustrate imminent challenges. In order to secure long-term acceptance of universal newborn screening within the society, its aims and contents should be determined through a transparent decision finding process. This may best be achieved through the establishment of a representative newborn screening advisory board.

摘要

始于20世纪60年代中期的针对一系列主要遗传性代谢和内分泌疾病的新生儿普遍筛查,是预防医学的一个成功案例。特别是在过去10至15年里的新技术进展,促使许多国家扩大了新生儿筛查。这使得更多儿童能够采取有时可挽救生命的预防措施,但同时也愈发明显的是,对于所有在技术上可行的疾病进行筛查可能并不审慎。本文提供了已被用于或讨论过的将“新”疾病纳入新生儿筛查项目的标准,并着重介绍了说明紧迫挑战的典型代谢性疾病。为确保社会长期接受新生儿普遍筛查,其目标和内容应通过透明的决策过程来确定。这最好通过设立一个具有代表性的新生儿筛查咨询委员会来实现。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验