title: Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  The CF screening program identified fewer children with a conclusive CF diagnosis than expected. Our data suggest a revision of the IRT/DNA protocol.
authors.affiliation: Norwegian National Unit for Newborn Screening, Women and Children's Division, Oslo University Hospital HF, Pb 4956 Nydalen, 0424 Oslo, Norway. Electronic address: emlund@ous-hf.no.
authors.forename: Emma
authors.initials: E
authors.lastname: Lundman
authors.affiliation: Norwegian National Unit for Newborn Screening, Women and Children's Division, Oslo University Hospital HF, Pb 4956 Nydalen, 0424 Oslo, Norway. Electronic address: heggau@ous-hf.no.
authors.forename: H Junita
authors.initials: HJ
authors.lastname: Gaup
authors.affiliation: Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway. Electronic address: egil.bakkeheim@ous-hf.no.
authors.forename: Egil
authors.initials: E
authors.lastname: Bakkeheim
authors.affiliation: Department of Paediatrics, Haukeland University Hospital, Bergen, Norway. Electronic address: edda.jonina.olafsdottir@helse-bergen.no.
authors.forename: Edda J
authors.initials: EJ
authors.lastname: Olafsdottir
authors.affiliation: Department of Paediatric Research, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway; University of Oslo, Oslo, Norway. Electronic address: trootwel@ous-hf.no.
authors.forename: Terje
authors.initials: T
authors.lastname: Rootwelt
authors.affiliation: Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway. Electronic address: UXOLTO@ous-hf.no.
authors.forename: Olav Trond
authors.initials: OT
authors.lastname: Storrøsten
authors.affiliation: Norwegian National Unit for Newborn Screening, Women and Children's Division, Oslo University Hospital HF, Pb 4956 Nydalen, 0424 Oslo, Norway. Electronic address: rdpetter@ous-hf.no.
authors.forename: Rolf D
authors.initials: RD
authors.lastname: Pettersen
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009313:National Health Programs / Q000592:standards / Q000706:statistics & numerical data; D020380:Needs Assessment; D015997:Neonatal Screening / Q000379:methods*; D009664:Norway / Q000453:epidemiology; D015397:Program Evaluation; D063189:Symptom Assessment / Q000379:methods; D014362:Trypsinogen / Q000032:analysis
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen
keywords: CFTR; Cystic fibrosis; Newborn screening