%0 Journal Article
%T Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences.
%A Xue A
%A Lénárt I
%A Kincs J
%A Szabó H
%A Párniczky A
%A Balogh I
%A Deák A
%A Monostori PB
%A Hegedűs K
%A Szabó AJ
%A Szatmári I
%J Int J Neonatal Screen
%V 9
%N 3
%D 2023 Aug 23
%M 37754773
暂无%R 10.3390/ijns9030047
%X The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) CFNBS protocol (IRT/IRT×PAP/IRT) was applied with an IRT-dependent safety net (SN). Out of 88,400 newborns, 256 were tested screen-positive. Fourteen cystic fibrosis (CF) and two cystic fibrosis-positive inconclusive diagnosis (CFSPID) cases were confirmed from the screen-positive cases, and two false-negative cases were diagnosed later. Based on the obtained results, a sensitivity of 88% and a positive predictive value (PPV) of 5.9% were calculated. Following the recognition of false-negative cases, the calculation method of the age-dependent cut-off was changed. In purely biochemical CFNBS protocols, a small protocol change, even after a short period, can have a significant positive impact on the performance. CFNBS should be monitored continuously in order to fine-tune the screening strategy and define the best local practices.