1. Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis.
- Author
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Sarles J, Berthézène P, Le Louarn C, Somma C, Perini JM, Catheline M, Mirallié S, Luzet K, Roussey M, Farriaux JP, Berthelot J, and Dagorn JC
- Subjects
- Cystic Fibrosis blood, Cystic Fibrosis genetics, DNA Mutational Analysis, France, Humans, Infant, Newborn, Neonatal Screening economics, Pancreatitis-Associated Proteins, Sensitivity and Specificity, Sweat Glands physiopathology, Antigens, Neoplasm blood, Biomarkers, Tumor blood, Cystic Fibrosis diagnosis, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Lectins, C-Type blood, Neonatal Screening methods, Trypsinogen blood
- 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.
- Published
- 2005
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