{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:23:35Z","timestamp":1791498215428,"version":"4.3.4"},"reference-count":99,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Newborn screening for cystic fibrosis (CF) has been universal in the US since 2010; however, there is significant variation among newborn screening algorithms. Systematic reviews were used to develop seven recommendations for newborn screening program practices to improve timeliness, sensitivity, and equity in diagnosing infants with CF: (1) The CF Foundation recommends the use of a floating immunoreactive trypsinogen (IRT) cutoff over a fixed IRT cutoff; (2) The CF Foundation recommends using a very high IRT referral strategy in CF newborn screening programs whose variant panel does not include all CF-causing variants in CFTR2 or does not have a variant panel that achieves at least 95% sensitivity in all ancestral groups within the state; (3) The CF Foundation recommends that CF newborn screening algorithms should not limit CFTR variant detection to the F508del variant or variants included in the American College of Medical Genetics-23 panel; (4) The CF Foundation recommends that CF newborn screening programs screen for all CF-causing CFTR variants in CFTR2; (5) The CF Foundation recommends conducting CFTR variant screening twice weekly or more frequently as resources allow; (6) The CF Foundation recommends the inclusion of a CFTR sequencing tier following IRT and CFTR variant panel testing to improve the specificity and positive predictive value of CF newborn screening; (7) The CF Foundation recommends that both the primary care provider and the CF specialist be notified of abnormal newborn screening results. Through implementation, it is anticipated that these recommendations will result in improved sensitivity, equity, and timeliness of CF newborn screening, leading to improved health outcomes for all individuals diagnosed with CF following newborn screening and a decreased burden on families.<\/jats:p>","DOI":"10.3390\/ijns11020024","type":"journal-article","created":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T16:26:31Z","timestamp":1743611191000},"page":"24","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation"],"prefix":"10.3390","volume":"11","author":[{"given":"Meghan","family":"McGarry","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA"},{"name":"Center for Respiratory Biology and 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karey","family":"Padding","sequence":"additional","affiliation":[{"name":"Community Representative to the CF Foundation, Bethesda, MD 20814, USA"},{"name":"The Cystic Fibrosis Foundation, Bethesda, MD 20814, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cambrey","family":"White","sequence":"additional","affiliation":[{"name":"Community Representative to the CF Foundation, Bethesda, MD 20814, USA"},{"name":"The Cystic Fibrosis Foundation, Bethesda, MD 20814, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7924-8521","authenticated-orcid":false,"given":"M.","family":"Dorley","sequence":"additional","affiliation":[{"name":"Laboratories Administration, Maryland Department of Health, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9579-6798","authenticated-orcid":false,"given":"Steven","family":"Hicks","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Pennsylvania State College of Medicine, Hershey, PA 17033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4431-0644","authenticated-orcid":false,"given":"Clement","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Tullis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nemours Children\u2019s Hospital, Wilmington, DE 19803, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra","family":"Freedenberg","sequence":"additional","affiliation":[{"name":"Division of Newborn Screening and Genetics, Texas Department of State Health Services, Austin, TX 78714, USA"},{"name":"Medical Geneticist and Consultant to the CF Foundation, Bethesda, MD 20814, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5228-8219","authenticated-orcid":false,"given":"Q.","family":"Wafford","sequence":"additional","affiliation":[{"name":"Galter Health Sciences Library, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Hempstead","sequence":"additional","affiliation":[{"name":"The Cystic Fibrosis Foundation, Bethesda, MD 20814, 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