Akademik Veri Yönetim Sistemi
47th European Cystic Fibrosis Conference, Glasgow, İngiltere, 5 - 08 Haziran 2024, ss.68, (Tam Metin Bildiri)
Objectives: We aimed to examine 7 years results of newborn screening program (NBS) in Turkiye. Methods: All children registered in the Turkish National Cystic Fibrosis Registry System in 2022 and born after 2015 -when screening first startedwere included in study. Patients were divided into 3 groups according to NBS results: Group 1; NBS was positive, Group 2; NBS was negative, Group 3; never been screened and NBS results are unknown. All clinical and demographic data were compared between the 3 groups. Results: There was a total of 931 patients, 52% of them were male. 78 patients were excluded due to missing data. There were 668 patients in Group 1, 90 in Group 2 and 95 in Group 3. The age at diagnosis was 0.17 (0.08–0.33) months in Group 1, 0.50 (0.25–1.0) months in Group 2 and 0.33 (0.17–0.75) months in Group 3, respectively (p < 0.001). The first sweat test was 76 mmol/L (59–86) in Group 1, 63.0 (50.25–79.5) in Group 2 and 76 (56–89.75) in Group 3 (p = 0.02). The second sweat test was 76 (59,75–87) in Group 1, 59.50 (42.75–78.75) in Group 2 and 65 (54–79) in Group 3 (p = 0.006). 101 patients could perform pulmonary function test. Median FEV1(%) was 88 (77–103) in Group 1, 90 (71.5–104) in Group 2, 89.5 (81.75– 97.5) in Group 3 (p > 0.05). There were no differences between the group in terms of number of pulmonary exacerbations, hospitalizations and days of iv antibiotics, chronic pseudomonas colonization (p > 0.05). 48% of the patients had severe genotype, 18% had a mild mutation genotype and 33.2% were unknown. Severe mutation genotype was detected most frequently in Group 1 (p = 0.021). Conclusion: Negative NBS result can delay CF diagnosis. Lower sweat test results in the group with negative NBS may also contribute to the delay in diagnosis. Further evaluation should be performed in patients with clinical suspicion, even if the NBS result is negative.