挪威囊性纤维化新生儿筛查的实施情况。头三年的结果。

Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.

作者信息

Lundman Emma, Gaup H Junita, Bakkeheim Egil, Olafsdottir Edda J, Rootwelt Terje, Storrøsten Olav Trond, Pettersen Rolf D

机构信息

Norwegian National Unit for Newborn Screening, Women and Children's Division, Oslo University Hospital HF, Pb 4956 Nydalen, 0424 Oslo, Norway.

Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway.

出版信息

J Cyst Fibros. 2016 May;15(3):318-24. doi: 10.1016/j.jcf.2015.12.017. Epub 2016 Jan 12.

DOI:10.1016/j.jcf.2015.12.017

PMID:26795017

Abstract

BACKGROUND

Norway introduced newborn screening for cystic fibrosis (CF) March 1, 2012. We present results from the first three years of the national newborn CF screening program.

METHODS

Positive primary screening of immunoreactive trypsinogen (IRT) was followed by DNA testing of the Cystic fibrosis transmembrane conductance regulator (CFTR) gene. Infants with two CFTR mutations were reported for diagnostic follow-up.

RESULTS

Of 181,859 infants tested, 1454 samples (0.80%) were assessed for CFTR mutations. Forty children (1:4546) had two CFTR mutations, of which only 21 (1:8660) were confirmed to have a CF diagnosis. The CFTR mutations differed from previously clinically diagnosed CF patients, and p.R117H outnumbered p.F508del as the most frequent mutation. One child with a negative IRT screening test was later clinically diagnosed with CF.

CONCLUSIONS

The CF screening program identified fewer children with a conclusive CF diagnosis than expected. Our data suggest a revision of the IRT/DNA protocol.

摘要

背景

挪威于2012年3月1日开始对囊性纤维化（CF）进行新生儿筛查。我们展示了国家新生儿CF筛查项目头三年的结果。

方法

对免疫反应性胰蛋白酶原（IRT）进行初步筛查呈阳性后，对囊性纤维化跨膜传导调节因子（CFTR）基因进行DNA检测。报告有两个CFTR突变的婴儿进行诊断性随访。

结果

在181,859名接受检测的婴儿中，有1454份样本（0.80%）进行了CFTR突变评估。40名儿童（1:4546）有两个CFTR突变，其中只有21名（1:8660）被确诊为CF。CFTR突变与之前临床诊断的CF患者不同，p.R117H作为最常见的突变超过了p.F508del。一名IRT筛查试验阴性的儿童后来被临床诊断为CF。