We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Neonatal Screening for Cystic Fibrosis in Hungary—First-Year Experiences.
- Authors
Xue, Andrea; Lénárt, István; Kincs, Judit; Szabó, Hajnalka; Párniczky, Andrea; Balogh, István; Deák, Anna; Monostori, Péter Béla; Hegedűs, Krisztina; Szabó, Attila J.; Szatmári, Ildikó
- Abstract
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.
- Subjects
HUNGARY; CYSTIC fibrosis diagnosis; NEWBORN screening; PILOT projects; EXPERIENCE; GENE expression; RESEARCH funding; DESCRIPTIVE statistics; TUMOR antigens; DATA analysis software
- Publication
International Journal of Neonatal Screening (IJNS), 2023, Vol 9, Issue 3, p47
- ISSN
2409-515X
- Publication type
Article
- DOI
10.3390/ijns9030047