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新生儿筛查的未来愿景。

A vision of the future of newborn screening.

作者信息

Alexander Duane, van Dyck Peter C

机构信息

National Institutes of Health, Bethesda, MD 20892, USA.

出版信息

Pediatrics. 2006 May;117(5 Pt 2):S350-4. doi: 10.1542/peds.2005-2633O.

Abstract

In 40 years, newborn screening has evolved to become a standard component of preventive public health. Despite its widespread acceptance, efforts need to be made to overcome some significant problems. There is inequity in the conditions for which states screen routinely, and many conditions that could be screened for are not, for economic or logistic reasons. Existing (tandem mass spectrometry) and potential (DNA microarray) technologies could be developed and put in place to correct these existing shortcomings. To do so will require investment in the technologies, combined with public and professional education and provision of a high-quality, accessible system for confirmation of diagnoses, family counseling, initiation of treatment, and the opportunity to participate in research to develop new or improved therapies.

摘要

在过去的40年里,新生儿筛查已发展成为预防性公共卫生的一个标准组成部分。尽管它已被广泛接受,但仍需努力克服一些重大问题。各州常规筛查的疾病存在不公平现象,而且由于经济或后勤原因,许多可以进行筛查的疾病并未得到筛查。现有的(串联质谱)和潜在的(DNA微阵列)技术可以得到开发和应用,以纠正这些现有缺陷。要做到这一点,需要对这些技术进行投资,同时开展公众和专业教育,并提供一个高质量、可及的系统,用于确诊、家庭咨询、开始治疗以及参与研发新的或改进疗法的研究。

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