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

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
Emma LundmanRolf D Pettersen

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.

Citations

Mar 11, 2019·European Journal of Pediatrics·Inken Brockow, Uta Nennstiel
Nov 5, 2019·Pediatric Pulmonology·Marianne SkovMorten Duno
Sep 2, 2016·Current Opinion in Pulmonary Medicine·Jürg Barben, Kevin W Southern
Sep 17, 2016·Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række·Ann Christin GjerstadHans-Jacob Bangstad
Oct 20, 2020·International Journal of Neonatal Screening·Anne BergougnouxEmmanuelle Girodon
Jun 29, 2018·International Journal of Neonatal Screening·Ana MarcãoLaura Vilarinho
Oct 20, 2020·International Journal of Neonatal Screening·Olaf Sommerburg, Jutta Hammermann
Oct 20, 2020·International Journal of Neonatal Screening·Virginie ScotetPhilip M Farrell
Feb 10, 2021·International Journal of Neonatal Screening·Virginie ScotetPhilip M Farrell
Feb 10, 2021·International Journal of Neonatal Screening·Anne BergougnouxEmmanuelle Girodon
Feb 10, 2021·International Journal of Neonatal Screening·Olaf Sommerburg, Jutta Hammermann
Apr 4, 2021·International Journal of Neonatal Screening·J Gerard LoeberPeter C J I Schielen
May 25, 2021·Frontiers in Pediatrics·Vanesa KoracinUrh Groselj
Aug 28, 2021·International Journal of Neonatal Screening·Allan Meldgaard LundRikke Katrine Jentoft Olsen

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