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001-es BibID:	BIBFORM114085
035-os BibID:	(cikkazonosító)47 (WoS)001073988300001 (Scopus)85172073907
Első szerző:	Xue Andrea
Cím:	Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences / Andrea Xue, István Lénárt, Judit Kincs, Hajnalka Szabó, Andrea Párniczky, István Balogh, Anna Deák, Péter Béla Monostori, Krisztina Hegedűs, Attila J. Szabó, Ildikó Szatmári
Dátum:	2023
ISSN:	2409-515X
Megjegyzések:	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/IRTxPAP/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.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	International Journal of Neonatal Screening. - 9 : 3 (2023), p. 1-10. -
További szerzők:	Lénárt István Kincs Judit Szabó Hajnalka Párniczky Andrea (gyermekgyógyász) Balogh István (1972-) (molekuláris biológus, genetikus) Deák Anna (1995-) (általános orvos) Monostori Péter Béla Hegedűs Krisztina Szabó Attila (gyermekgyógyász Budapest) Szatmári Ildikó
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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