囊性纤维化新生儿筛查的历史——早期岁月
History of Newborn Screening for Cystic Fibrosis-The Early Years.
作者信息
Travert Georges, Heeley Mary, Heeley Anthony
机构信息
University of Caen Normandy (UNICAEN), 14032 Caen, France.
Caen University Hospital, 14040 Caen, France.
出版信息
Int J Neonatal Screen. 2020 Jan 31;6(1):8. doi: 10.3390/ijns6010008. eCollection 2020 Mar.
Abstract
This review summarises the trajectory of neonatal screening strategies for the detection of cystic fibrosis (CF) using the measurement of Immunoreactive Trypsin (IRT) in dried blood spots (DBS) from 1979 until the beginning of the 21st century when newborn screening (NBS) programmes started to spread throughout many countries, using IRT measurement combined with a CF genotype analysis of DBS.
摘要
本综述总结了从1979年到21世纪初新生儿筛查策略的发展轨迹，这些策略用于通过检测干血斑（DBS）中的免疫反应性胰蛋白酶（IRT）来诊断囊性纤维化（CF）。到21世纪初，新生儿筛查（NBS）项目开始在许多国家推广，采用IRT检测并结合对DBS进行CF基因分型分析的方法。
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