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

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

doi:10.1016/j.jcf.2015.12.017

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

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

Authors

Emma Lundman¹, H Junita Gaup², Egil Bakkeheim³, Edda J Olafsdottir⁴, Terje Rootwelt⁵, Olav Trond Storrøsten⁶, Rolf D Pettersen⁷

Affiliations

¹ Norwegian National Unit for Newborn Screening, Women and Children's Division, Oslo University Hospital HF, Pb 4956 Nydalen, 0424 Oslo, Norway. Electronic address: [email protected].
² Norwegian National Unit for Newborn Screening, Women and Children's Division, Oslo University Hospital HF, Pb 4956 Nydalen, 0424 Oslo, Norway. Electronic address: [email protected].
³ Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway. Electronic address: [email protected].
⁴ Department of Paediatrics, Haukeland University Hospital, Bergen, Norway. Electronic address: [email protected].
⁵ Department of Paediatric Research, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway; University of Oslo, Oslo, Norway. Electronic address: [email protected].
⁶ Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway. Electronic address: [email protected].
⁷ Norwegian National Unit for Newborn Screening, Women and Children's Division, Oslo University Hospital HF, Pb 4956 Nydalen, 0424 Oslo, Norway. Electronic address: [email protected].

PMID: 26795017
DOI: 10.1016/j.jcf.2015.12.017

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.

Keywords: CFTR; Cystic fibrosis; Newborn screening.

MeSH terms

Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Cystic Fibrosis* / diagnosis
Cystic Fibrosis* / epidemiology
Cystic Fibrosis* / genetics
Female
Genetic Testing* / methods
Genetic Testing* / statistics & numerical data
Humans
Infant, Newborn
Male
Mutation
National Health Programs / standards
National Health Programs / statistics & numerical data
Needs Assessment
Neonatal Screening / methods*
Norway / epidemiology
Program Evaluation
Symptom Assessment / methods
Trypsinogen / analysis

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator
Trypsinogen