%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.
%V 9
%D 2023
%N 3
%L publicatio35772
%A  Xue Andrea
%A  LĂŠnĂĄrt IstvĂĄn
%A  Kincs Judit
%A  SzabĂł Hajnalka
%A  PĂĄrniczky Andrea
%A  Balogh IstvĂĄn
%A  DeĂĄk Anna
%A  Monostori PĂŠter
%A  HegedĹąs Krisztina
%A  SzabĂł Attila
%A  SzatmĂĄri IldikĂł
%T Neonatal Screening for Cystic Fibrosis in Hungary—First-Year Experiences
%R MTMT:34139210 10.3390/ijns9030047
%I szte
%J INTERNATIONAL JOURNAL OF NEONATAL SCREENING