Akademik Veri Yönetim Sistemi
47th European Cystic Fibrosis Conference, Glasgow, İngiltere, 5 - 08 Haziran 2024, ss.67, (Özet Bildiri)
Background: The implementation of newborn screening (NBS) has revolutionized the diagnostic landscape of Cystic Fibrosis (CF). In Portugal, NBS was initiated in October 2013 through a pilot study and was subsequently fully integrated into a nationwide program by December 2018. Infants with positive screening results are referred to a specialized CF reference centre for diagnostic confirmation, employing either Sweat Chloride Testing (SCT) or genetic testing for CFTR mutations. Objectives: We aimed to analyse infants with a positive CF screening and determine the false positive and false negative rates, as well as to calculate the positive predictive value and sensitivity of our NBS program. Methods: A retrospective nationwide analysis was conducted on infants with a positive NBS for CF between October 2013 and February 2023. In Portugal, IRT is assessed from dried blood samples, using a 65 ng/mL threshold. Elevated IRT leads to PAP measurement. If PAP exceeds 1.6 ng/ mL, a second IRT evaluation is performed, and an infant is considered CF NBS-positive if the second IRT value is above 50 ng/mL. Results: Two-hundred and forty infants were referred from the NBS program; 74 (31%) were confirmed to have CF through SCT or genetic testing. Sensitivity was 97% and the positive predictive value (PPV) was 31%. Amongst the infants with a confirmed diagnosis, the average first IRT value was 185.51 ng/mL. The median age at the first evaluation in a reference centre was 34 days. The mean sweat chloride level was 87.45 mmol/L; 78% of the infants were pancreatic insufficient at presentation; 48.5% were homozygous for F508del mutations and 88% had at least one F508del mutation. Conclusion: Guidelines set forth by the European Cystic Fibrosis Society, advise NBS programs to achieve a minimum PPV of 30% and a minimum sensitivity of 95%. Our report demonstrated good compliance with these recommendations.