Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland.
BACKGROUND
Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, but there is no ideal protocol suitable for all countries. This retrospective study was conducted to evaluate whether the planned two step CF NBS with immunoreactive trypsinogen (IRT) and 7 CFTR mutations would have detected all clinically diagnosed children with CF in Switzerland.


METHODS
IRT was measured using AutoDELFIA Neonatal IRT-Kit in stored NBS cards.


RESULTS
Between 2006 and 2009, 66 children with CF were reported, 4 of which were excluded for various reasons (born in another country, NBS at 6 months, no informed consent). 98% (61/62) had significantly higher IRT compared to matched control group. There was one false negative IRT result in an asymptomatic child with atypical CF (normal pancreatic function and sweat test).


CONCLUSIONS
All children but one with atypical CF would have been detected with the planned two step protocol.
Head Division of Paediatric Pulmonology, Children's Hospital, St. Gallen, Switzerland. juerg.barben@kispisg.ch
Juerg
J
Barben
Sabina
S
Gallati
Ralph
R
Fingerhut
Martin H
MH
Schoeni
Matthias R
MR
Baumgartner
Toni
T
Torresani
D000465:Algorithms; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D059788:Dried Blood Spot Testing / Q000592:standards*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000592:standards*; D015203:Reproducibility of Results; D012189:Retrospective Studies; D013557:Switzerland; D014362:Trypsinogen / Q000097:blood
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen