TY  - JOUR
JF  - INTERNATIONAL JOURNAL OF NEONATAL SCREENING
TI  - Neonatal Screening for Cystic Fibrosis in Hungary?First-Year Experiences
IS  - 3
A1  -  Xue Andrea
A1  -  Lénárt István
A1  -  Kincs Judit
A1  -  Szabó Hajnalka
A1  -  Párniczky Andrea
A1  -  Balogh István
A1  -  Deák Anna
A1  -  Monostori Péter
A1  -  Heged?s Krisztina
A1  -  Szabó Attila
A1  -  Szatmári Ildikó
AV  - public
UR  - https://doi.org/10.3390/ijns9030047
EP  - 10
SN  - 2409-515X
VL  - 9
Y1  - 2023///
N2  - 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.
ID  - publicatio35772
ER  -