Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences

Overview

Journal Int J Neonatal Screen

Date 2023 Sep 27

PMID 37754773

Authors

Andrea Xue

Istvan Lenart

Judit Kincs

Hajnalka Szabo

Andrea Parniczky

Istvan Balogh

Anna Deak

Peter Bela Monostori

Krisztina Hegedus

Attila J Szabo

Ildiko Szatmari

Affiliations

Soon will be listed here.

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.

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