Combining IRT/PAP+SN with DNA analysis for the best CF newborn screening strategy for Germany

Introduction: Evidence from recent European studies suggests that protocols using immunoreactive trypsine (IRT) and pancreatitis associated protein (PAP) for cystic fibrosis (CF) newborn screening (NBS) may be successfully used as a purely biochemical NBS strategy that does not require genetic screening. Pure IRT/PAP protocols can reach acceptable sensitivities and specificities, but this comes at the expense of a relatively low positive predictive value (PPV). The Dutch CHOPIN study (Vernooij-van Langen 2012) has reported that using a three tier strategy (IRT/PAP + extended gene analysis) results in a better PP…