ISNS新生儿血斑筛查一般指南2025。

IF 4 Q1 GENETICS & HEREDITY
Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan, Layachi Chabraoui, Ghassan Abdoh, Juan Cabello, Roberto Giugliani, Dimitris Platis, Jan Østrup, R Rodney Howell, Peter C J I Schielen, James R Bonham
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引用次数: 0

摘要

ISNS的部分愿景是“通过传播信息、指南和最佳做法,提高新生儿筛查和医疗服务的质量”。虽然新生儿筛查包括在新生儿时期检测严重的先天性心脏病、听力障碍、出生缺陷和先天性生化疾病(通常是血斑),但本指南专门针对血斑筛查。ISNS已经提供了多年的新生儿筛查指南,这里提出了更新的2025年新生儿血斑筛查一般指南。它们旨在为筛查项目提供一个框架,以围绕新生儿筛查系统的各个方面制定具体政策,提供一套供考虑的基本项目。这些指南为建立、扩大或维持组织健全的新生儿或新生儿筛查(NBS)项目提供了可靠的基础,并为评估和改进这些项目的基本要素提供了清单。对于启动或开发项目,它是一组元素,这些元素需要有适当的规定,以及筛选项目至少应该有规定的项目清单。这些指导方针的发布旨在作为互动讨论的起点,以进一步改进本文件并在必要时进行扩展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
ISNS General Guidelines for Neonatal Bloodspot Screening 2025.

Part of the vision of the ISNS is 'to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices.' Although newborn screening encompasses testing in the newborn period for critical congenital heart disease, hearing impairment, birth defects, and congenital biochemical disorders (usually on bloodspots), this guideline is specifically about bloodspot screening. The ISNS has provided neonatal screening guidelines for many years and here presents the renewed 2025 General Guidelines for Neonatal Bloodspot Screening. They are intended to provide a framework for screening programs to develop specific policies around all aspects of the newborn screening system, offering the basic set of items for consideration. These guidelines provide trusted anchors to build, expand, or maintain robustly organized neonatal or newborn screening (NBS) programs and a checklist to evaluate and improve the essential elements of those programs. For starting or developing programs, it is a set of elements for which provisions need to be in place and a checklist of items that the screening program should at a minimum have provisions for. The publication of these guidelines is meant as a starting point for interactive discussion, to further improve this document and expand where necessary.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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