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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.
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 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) 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 anal ysis and is cheaper and easier to implement than the current IRT / CFTR mutation strategy.