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新生儿筛查:现状

Newborn screening: current status.

作者信息

Arn Pamela H

机构信息

Nemours Children's Clinic, Jacksonville, Florida, USA.

出版信息

Health Aff (Millwood). 2007 Mar-Apr;26(2):559-66. doi: 10.1377/hlthaff.26.2.559.

Abstract

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. Newborn screening programs are state-run, and decisions are left to the individual states regarding the conditions to be screened for, the mechanism for confirmatory testing, follow-up care, and financing of the programs. Laboratory advances in tandem mass spectrometry make it possible to screen newborns for many rare inborn errors of metabolism. This raises many policy issues including screening's cost-effectiveness, ethics, quality, and oversight.

摘要

新生儿筛查是上个世纪儿童健康领域的重大进展之一,自20世纪70年代以来,美国所有50个州都开展了这项工作。新生儿筛查项目由各州运营,关于筛查的疾病、确诊检测机制、后续护理以及项目资金等问题,由各州自行决定。串联质谱技术在实验室方面的进步使得对新生儿进行多种罕见的先天性代谢缺陷病筛查成为可能。这引发了许多政策问题,包括筛查的成本效益、伦理、质量和监督等。

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