title: Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.
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.
authors: AFDPHE, 75015 Paris, France; Aix-Marseille University, Hôpital d'Enfants de la Timone, 13005 Marseille, France. Electronic address: jacques.sarles@ap-hm.fr.
authors: Jacques
authors: J
authors: Sarles
authors: 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.
authors: Roch
authors: R
authors: Giorgi
authors: INSERM, U1068 "Centre de Recherche en Cancérologie de Marseille" (CRCM), 13009 Marseille, France; Aix-Marseille University, UMR 1068, 13009 Marseille, France.
authors: Patrice
authors: P
authors: Berthézène
authors: AFDPHE, 75015 Paris, France; CRCM Pédiatrique, Assistance Publique-Hopitaux de Paris, Université Paris 7, Hopital Robert Debré, Paris, France.
authors: Anne
authors: A
authors: Munck
authors: AFDPHE, 75015 Paris, France; Service Maladies Héréditaires du Métabolisme, Groupement Hospitalier Est, INSERM U1060/Université Lyon 1/Hospices Civils de Lyon, Lyon, France.
authors: David
authors: D
authors: Cheillan
authors: INSERM, U1068 "Centre de Recherche en Cancérologie de Marseille" (CRCM), 13009 Marseille, France; Aix-Marseille University, UMR 1068, 13009 Marseille, France.
authors: Jean-Charles
authors: JC
authors: Dagorn
authors: Hôpital sud CHU Université de Rennes I, 35203 Rennes, France; AFDPHE, 75015 Paris, France.
authors: Michel
authors: M
authors: Roussey
mesh_terms: D000951:Antigens, Neoplasm / Q000097:blood*; D014408:Biomarkers, Tumor / Q000097:blood* / Q000235:genetics; D003550:Cystic Fibrosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D037181:Lectins, C-Type / Q000097:blood*; D008297:Male; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D000073718:Pancreatitis-Associated Proteins; D012189:Retrospective Studies; D014362:Trypsinogen / Q000097:blood / Q000235:genetics*
chemical_list: D000951:Antigens, Neoplasm; D014408:Biomarkers, Tumor; D037181:Lectins, C-Type; D000073718:Pancreatitis-Associated Proteins; C000612141:REG3A protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen; D004247:DNA
keywords: CFTR; Cystic fibrosis; IRT; Neonatal screening; Non-inferiority; PAP