Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis

J Pediatr. 2005 Sep;147(3):302-5. doi: 10.1016/j.jpeds.2005.05.017.

Abstract

Objectives: To evaluate the performance of a strategy in which, after immunoreactive trypsinogen (IRT) determination, genetic analysis is replaced by a biological test, the pancreatitis-associated protein (PAP) enzyme-linked immunosorbent assay (ELISA).

Study design: The French newborn screening program includes cystic fibrosis (CF) screening by the IRT/CFTR mutation strategy. PAP was assayed on screening cards, in parallel with IRT, in all newborns from 5 French regions (n = 204,749). Analysis of PAP values in CF and non-CF newborns with elevated IRT allowed direct comparison between the current strategy and the proposed IRT/PAP strategy.

Results: A protocol in which newborns with IRT >50 ng/mL and PAP >1.8 ng/mL and those with IRT >100 ng/mL and PAP >1.0 ng/mL are directly recalled for sweat testing would have the same performance as the IRT/CFTR mutation strategy.

Conclusions: The IRT/PAP strategy is an alternative for CF newborn screening, which avoids the drawbacks of genetic analysis and is cheaper and easier to implement than the current IRT/CFTR mutation strategy.

Publication types

  • Clinical Trial
  • Comparative Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Neoplasm / blood*
  • Biomarkers, Tumor / blood*
  • Cystic Fibrosis / blood
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • France
  • Humans
  • Infant, Newborn
  • Lectins, C-Type / blood*
  • Neonatal Screening / economics
  • Neonatal Screening / methods*
  • Pancreatitis-Associated Proteins
  • Sensitivity and Specificity
  • Sweat Glands / physiopathology
  • Trypsinogen / blood*

Substances

  • Antigens, Neoplasm
  • Biomarkers, Tumor
  • CFTR protein, human
  • Lectins, C-Type
  • Pancreatitis-Associated Proteins
  • REG3A protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Trypsinogen