{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T14:39:29Z","timestamp":1787582369063,"version":"build-2736575974"},"reference-count":13,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T00:00:00Z","timestamp":1748995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shota Rustaveli National Science Foundation of Georgia","award":["PhD-23-638"],"award-info":[{"award-number":["PhD-23-638"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Cystic fibrosis (CF) is a chronic, autosomal-recessive disorder caused by mutations in the CFTR gene, leading to thickened secretions that affect multiple organ systems. This study examines the effectiveness of Georgia\u2019s national CF screening program, which was initiated in 2012 and includes the measurement of immunoreactive trypsinogen (IRT) levels at birth. An analysis of data from 2022 and 2023 revealed a decrease in follow-up attendance for sweat chloride testing among newborns with elevated IRT levels, from 59.9% to 51.2%. The birth prevalence of cystic fibrosis in Georgia varied, suggesting a need to improve both the accessibility of free testing and the quality of follow-up care. Identified barriers include limited access to screening results for pediatricians and the cost of follow-up tests. Recommendations include incorporating free sweat chloride and genetic testing into the national program, as well as improving community education and coordination with social agencies. The identification of 29 CFTR mutations in patients underscores the importance of continued genetic counseling. Overall, while the screening program shows promise, addressing these barriers is essential to improve outcomes and ensure the timely diagnosis and management of cystic fibrosis in Georgia.<\/jats:p>","DOI":"10.3390\/ijns11020043","type":"journal-article","created":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T11:14:12Z","timestamp":1749035652000},"page":"43","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022\u20132023)"],"prefix":"10.3390","volume":"11","author":[{"given":"Nino","family":"Vardosanidze","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, Tbilisi State Medical University, Tbilisi 0186, Georgia"},{"name":"General Pediatrics Department, Medical Genetics and Laboratory Diagnostics Center, Tbilisi 0159, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nani","family":"Kavlashvili","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Tbilisi State Medical University, Tbilisi 0186, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lali","family":"Margvelashvili","sequence":"additional","affiliation":[{"name":"General Pediatrics Department, Medical Genetics and Laboratory Diagnostics Center, Tbilisi 0159, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7279-3690","authenticated-orcid":false,"given":"Oleg","family":"Kvlividze","sequence":"additional","affiliation":[{"name":"New Vision University, Tbilisi 0159, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikheil","family":"Diakonidze","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Tbilisi State Medical University, Tbilisi 0186, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4568-0110","authenticated-orcid":false,"given":"Saba","family":"Iordanishvili","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Petre Shotadze Tbilisi Medical Academy, Tbilisi 0144, Georgia"},{"name":"Ilia State University, Tbilisi 0179, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dodo","family":"Agladze","sequence":"additional","affiliation":[{"name":"General Pediatrics Department, Medical Genetics and Laboratory Diagnostics Center, Tbilisi 0159, Georgia"},{"name":"Department of General Pediatrics, Petre Shotadze Tbilisi Medical Academy, Tbilisi 0144, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1126\/science.2570460","article-title":"Identification of the cystic fibrosis gene","volume":"245","author":"Kerem","year":"1990","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1126\/science.2475911","article-title":"Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA","volume":"245","author":"Riordan","year":"1989","journal-title":"Science"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/nrg3849","article-title":"Cystic fibrosis genetics: From molecular understanding to clinical application","volume":"16","author":"Cutting","year":"2014","journal-title":"Nat. Rev. Genet."},{"key":"ref_4","first-page":"1120","article-title":"Cystic fibrosis: A review of pathophysiology, diagnosis, and management","volume":"14","author":"Farhan","year":"2021","journal-title":"Int. J. Clin. Exp. Med."},{"key":"ref_5","unstructured":"Cystic Fibrosis Foundation (2023). Cystic Fibrosis Foundation Patient Registry Report, Cystic Fibrosis Foundation."},{"key":"ref_6","first-page":"23","article-title":"Cystic fibrosis: A disease of the CFTR ion channel","volume":"70","author":"Quinton","year":"2008","journal-title":"Annu. Rev. Physiol."},{"key":"ref_7","first-page":"411","article-title":"Newborn screening for cystic fibrosis: A global perspective","volume":"99","author":"Cono","year":"1997","journal-title":"Pediatrics"},{"key":"ref_8","first-page":"1373","article-title":"Cystic fibrosis","volume":"394","author":"Knowles","year":"2019","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"107679","DOI":"10.1016\/j.ymgme.2023.107679","article-title":"Why cystic fibrosis newborn screening programs have failed to meet original expectations\u2026 thus far","volume":"140","author":"Farrell","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Scotet, V., Gutierrez, H., and Farrell, P.M. (2020). NBS for CF across the Globe\u2014Where Is It Worthwhile?. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010018"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1016\/j.jpeds.2016.09.064","article-title":"Diagnosis of cystic fibrosis: Consensus guidelines from the cystic fibrosis foundation","volume":"181","author":"Farrell","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_12","first-page":"145","article-title":"Specifics of cystic fibrosis genetic spectrum in Georgia","volume":"8","author":"Khurtsilava","year":"2023","journal-title":"Int. J. Internet Res."},{"key":"ref_13","unstructured":"CFTR2 Database (2025, January 10). CFTR Mutations and Disease Severity. Available online: http:\/\/cftr2.org."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/2\/43\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:46:45Z","timestamp":1760032005000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/2\/43"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,4]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["ijns11020043"],"URL":"https:\/\/doi.org\/10.3390\/ijns11020043","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,4]]}}}