Emma Lundman1, H Junita Gaup2, Egil Bakkeheim3, Edda J Olafsdottir4, Terje Rootwelt5, Olav Trond Storrøsten6, Rolf D Pettersen7. 1. 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. 2. 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. 3. Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway. Electronic address: egil.bakkeheim@ous-hf.no. 4. Department of Paediatrics, Haukeland University Hospital, Bergen, Norway. Electronic address: edda.jonina.olafsdottir@helse-bergen.no. 5. 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. 6. Norwegian Resource Centre for Cystic Fibrosis, Women and Children's Division, Oslo University Hospital HF, Oslo, Norway. Electronic address: UXOLTO@ous-hf.no. 7. 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.
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.
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.
Authors: Janne Strand; Kiran Aftab Gul; Hans Christian Erichsen; Emma Lundman; Mona C Berge; Anette K Trømborg; Linda K Sørgjerd; Mari Ytre-Arne; Silje Hogner; Ruth Halsne; Hege Junita Gaup; Liv T Osnes; Grete A B Kro; Hanne S Sorte; Lars Mørkrid; Alexander D Rowe; Trine Tangeraas; Jens V Jørgensen; Charlotte Alme; Trude E H Bjørndalen; Arild E Rønnestad; Astri M Lang; Terje Rootwelt; Jochen Buechner; Torstein Øverland; Tore G Abrahamsen; Rolf D Pettersen; Asbjørg Stray-Pedersen Journal: Front Immunol Date: 2020-07-09 Impact factor: 7.561