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

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

Author information

  • 1Norwegian 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.
  • 2Norwegian 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.
  • 3Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway. Electronic address: egil.bakkeheim@ous-hf.no.
  • 4Department of Paediatrics, Haukeland University Hospital, Bergen, Norway. Electronic address: edda.jonina.olafsdottir@helse-bergen.no.
  • 5Department 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.
  • 6Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway. Electronic address: UXOLTO@ous-hf.no.
  • 7Norwegian 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.

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

PMID:
26795017
DOI:
10.1016/j.jcf.2015.12.017
[PubMed - in process]
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