回顾性分析囊性纤维化患儿和匹配对照的储存干血斑，以评估瑞士拟议的新生儿筛查方案的性能。

Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland.

机构信息

Head Division of Paediatric Pulmonology, Children's Hospital, St. Gallen, Switzerland.

出版信息

J Cyst Fibros. 2012 Jul;11(4):332-6. doi: 10.1016/j.jcf.2012.01.001. Epub 2012 Feb 1.

DOI:10.1016/j.jcf.2012.01.001

PMID:22300503

Abstract

BACKGROUND

Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, but there is no ideal protocol suitable for all countries. This retrospective study was conducted to evaluate whether the planned two step CF NBS with immunoreactive trypsinogen (IRT) and 7 CFTR mutations would have detected all clinically diagnosed children with CF in Switzerland.

METHODS

IRT was measured using AutoDELFIA Neonatal IRT-Kit in stored NBS cards.

RESULTS

Between 2006 and 2009, 66 children with CF were reported, 4 of which were excluded for various reasons (born in another country, NBS at 6 months, no informed consent). 98% (61/62) had significantly higher IRT compared to matched control group. There was one false negative IRT result in an asymptomatic child with atypical CF (normal pancreatic function and sweat test).

CONCLUSIONS

All children but one with atypical CF would have been detected with the planned two step protocol.

摘要

背景

囊性纤维化（CF）的新生儿筛查（NBS）已在许多国家引入，但没有适合所有国家的理想方案。本回顾性研究旨在评估采用计划中的两步法 CF NBS（免疫反应性胰蛋白酶原（IRT）和 7 个 CFTR 突变）是否可以检测到瑞士所有临床诊断的 CF 患儿。

方法

使用 AutoDELFIA 新生儿 IRT-Kit 在储存的 NBS 卡上测量 IRT。

结果

2006 年至 2009 年间，共报告了 66 例 CF 患儿，其中 4 例因各种原因被排除（出生在另一个国家、6 个月时进行 NBS、未获得知情同意）。62 例中有 98%（61/62）的 IRT 显著高于匹配对照组。在一例无症状的非典型 CF 患儿（胰腺功能和汗液试验正常）中，IRT 出现了一个假阴性结果。