Jacques Sarles1, Roch Giorgi2, Patrice Berthézène3, Anne Munck4, David Cheillan5, Jean-Charles Dagorn3, Michel Roussey6. 1. AFDPHE, 75015 Paris, France; Aix-Marseille University, Hôpital d'Enfants de la Timone, 13005 Marseille, France. Electronic address: jacques.sarles@ap-hm.fr. 2. INSERM, UMR912 "Economics and Social Sciences Applied to Health & Analysis of Medical Information" (SESSTIM), 13006 Marseille, France; Aix Marseille University, UMR_S912, IRD, 13006 Marseille, France. 3. INSERM, U1068 "Centre de Recherche en Cancérologie de Marseille" (CRCM), 13009 Marseille, France; Aix-Marseille University, UMR 1068, 13009 Marseille, France. 4. AFDPHE, 75015 Paris, France; CRCM Pédiatrique, Assistance Publique-Hopitaux de Paris, Université Paris 7, Hopital Robert Debré, Paris, France. 5. AFDPHE, 75015 Paris, France; Service Maladies Héréditaires du Métabolisme, Groupement Hospitalier Est, INSERM U1060/Université Lyon 1/Hospices Civils de Lyon, Lyon, France. 6. Hôpital sud CHU Université de Rennes I, 35203 Rennes, France; AFDPHE, 75015 Paris, France.
Abstract
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.
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.
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