{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:23:33Z","timestamp":1791498213957,"version":"4.3.4"},"reference-count":30,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T00:00:00Z","timestamp":1759104000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["LINNEM22Q10"],"award-info":[{"award-number":["LINNEM22Q10"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["OLIVER22A0-KB"],"award-info":[{"award-number":["OLIVER22A0-KB"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["TRUITT21B0"],"award-info":[{"award-number":["TRUITT21B0"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R00HL151965"],"award-info":[{"award-number":["R00HL151965"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["IJNS"],"abstract":"<jats:p>Early diagnosis by newborn screening (NBS) has contributed to improved outcomes in children with cystic fibrosis (CwCF). Georgia\u2019s two-tiered algorithm consists of a fixed immunoreactive trypsinogen (IRT) cut-off followed by a 39-variant CFTR genetic panel. We conducted a retrospective review of CwCF born in Georgia from 2007 to 2022 to evaluate false negative NBS frequency. We characterized CwCF whose diagnosis was delayed beyond 28 days of age despite positive NBS. Six cases were detailed demonstrating the impact of missed and delayed diagnoses. We examined IRT trends from 2018 to 2022 and cut-off approaches. Missed case detection by expanded CFTR variant assays was assessed. Of 390 CwCF born in Georgia, 18 (4.6%) had false negative NBS\u20146 due to lack of CFTR variant detection and 12 due to low IRT values. Thirty children had delayed diagnosis, with the majority related to sweat testing. Minoritized children made up 19% of the population but 43% of missed and 44% of delayed diagnoses. Black and Hispanic infants had higher odds of missed or delayed diagnosis compared to non-Hispanic White infants (OR = 2.7, p = 0.027 and OR = 6.1, p &lt; 0.001, respectively). Average IRT values varied across kits and were lower in warmer seasons. Expanded CFTR assays would reduce missed cases. Our results informed recommendations for improvement at multiple steps in the NBS process.<\/jats:p>","DOI":"10.3390\/ijns11040087","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T09:12:23Z","timestamp":1759223543000},"page":"87","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Evaluating Georgia\u2019s Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations"],"prefix":"10.3390","volume":"11","author":[{"given":"Brittany","family":"Truitt","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"},{"name":"Children\u2019s Healthcare of Atlanta, Atlanta, GA 30329, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6330-4680","authenticated-orcid":false,"given":"Eileen","family":"Barr","sequence":"additional","affiliation":[{"name":"Children\u2019s Healthcare of Atlanta, Atlanta, GA 30329, USA"},{"name":"Department of Human Genetics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Wittenauer","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4915-462X","authenticated-orcid":false,"given":"Andrew","family":"Jergel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shasha","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0423-2557","authenticated-orcid":false,"given":"Rossana","family":"Sanchez Russo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7781-7006","authenticated-orcid":false,"given":"Kathryn E.","family":"Oliver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"McKie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Augusta University, Augusta, GA 30912, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6839-0936","authenticated-orcid":false,"given":"Rachel W.","family":"Linnemann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"},{"name":"Children\u2019s Healthcare of Atlanta, Atlanta, GA 30329, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,29]]},"reference":[{"key":"ref_1","unstructured":"(2024). 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