Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences.
cystic fibrosis (CF)
immunoreactive trypsinogen (IRT)
newborn screening (NBS)
pancreatitis-associated protein (PAP)
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
23 Aug 2023
23 Aug 2023
Historique:
received:
12
06
2023
revised:
09
08
2023
accepted:
15
08
2023
medline:
27
9
2023
pubmed:
27
9
2023
entrez:
27
9
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37754773
pii: ijns9030047
doi: 10.3390/ijns9030047
pmc: PMC10531581
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Ministry of Human Capacities
ID : 10541-4/2019/EGST
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