Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.
BACKGROUND
French health authorities promoted a study on 553,167 newborns comparing the performances of IRT/DNA and IRT/PAP for CF newborn screening.


METHODS
In parallel to IRT/DNA, PAP was assayed in newborns with IRT>50 μg/L. Provisional PAP cutoffs at 3.0 μg/L when 50<IRT<100 μg/L and 1.7 μg/L when IRT>100 were used. Positive newborns were subjected to sweat test. Optimal cutoffs were established by a non-inferiority method.


RESULTS
95 CF newborns were identified (83 classical forms (ClF), including 9 meconium ileus (MI), and 12 atypical (mild) forms (AF) Of them, IRT/DNA identified 85 (73 ClF including 5 MI and 12 AF). PAP cutoffs at 1.8 μg/L when 50< IRT<100 μg/L and 0.6 μg/L when IRT>100 μg/L would identify 82 CF: 77 ClF, including 8 MI, and 5 AF. The number of sweat tests was 314 and 1039 in the IRT/DNA and IRT/PAP strategies, respectively.


CONCLUSIONS
Using the optimal cutoffs, the sensitivity of the IRT/PAP strategy would not be inferior to that of IRT/DNA if identification of MF is not required.
['Sarles|Jacques|J|', 'Giorgi|Roch|R|', 'Berthézène|Patrice|P|', 'Munck|Anne|A|', 'Cheillan|David|D|', 'Dagorn|Jean-Charles|JC|', 'Roussey|Michel|M|']
D000951:Antigens, Neoplasm D014408:Biomarkers, Tumor D003550:Cystic Fibrosis D019005:Cystic Fibrosis Transmembrane Conductance Regulator D004247:DNA D004252:DNA Mutational Analysis D005260:Female D005500:Follow-Up Studies D005820:Genetic Testing D006801:Humans D007231:Infant, Newborn D037181:Lectins, C-Type D008297:Male D009154:Mutation D015997:Neonatal Screening D000073718:Pancreatitis-Associated Proteins D012189:Retrospective Studies D014362:Trypsinogen
Neonatal screening Cystic fibrosis IRT PAP Non-inferiority CFTR