{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T02:26:14Z","timestamp":1769826374308,"version":"3.49.0"},"reference-count":62,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T00:00:00Z","timestamp":1690502400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>As of December 2009, cystic fibrosis (CF) newborn screening (NBS) is performed in all 50 US states and the District of Columbia. Widespread implementation of CF newborn screening (CFNBS) in the US and internationally has brought about new and varied challenges. Immunoreactive trypsinogen (IRT) remains the first, albeit imperfect, biomarker used universally in the screening process. Advances in genetic testing have provided an opportunity for newborn screening programs to add CFTR sequencing tiers to their algorithms. This in turn will enable earlier identification of babies with CF and improve longer-term outcomes through prompt treatment and intervention. CFTR sequencing has led to the ability to identify infants with CF from diverse ethnic and racial backgrounds more equitably while also identifying an increasing proportion of infants with inconclusive diagnoses. Using the evolution of the New York State CF newborn screening program as a guide, this review outlines the basic steps in a universal CF newborn screening program, considers how to reduce bias, highlights challenges, offers guidance to address these challenges and provides recommendations for future consideration.<\/jats:p>","DOI":"10.3390\/life13081646","type":"journal-article","created":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T07:35:24Z","timestamp":1690529724000},"page":"1646","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0518-7356","authenticated-orcid":false,"given":"Joan Kathleen","family":"DeCelie-Germana","sequence":"first","affiliation":[{"name":"Cohen Children\u2019s Medical Center, Division of Pediatric Pulmonary and Cystic Fibrosis, Zucker School of Medicine at Hofstra\/Northwell, New York, NY 11040, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Bonitz","sequence":"additional","affiliation":[{"name":"Cohen Children\u2019s Medical Center, Division of Pediatric Pulmonary and Cystic Fibrosis, Zucker School of Medicine at Hofstra\/Northwell, New York, NY 11040, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8119-7559","authenticated-orcid":false,"given":"Elinor","family":"Langfelder-Schwind","sequence":"additional","affiliation":[{"name":"The Cystic Fibrosis Center, Department of Pulmonary Medicine, Lenox Hill Hospital, Northwell Health, New York, NY 10075, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3694-9122","authenticated-orcid":false,"given":"Catherine","family":"Kier","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Renaissance School of Medicine at Stony Brook, Stony Brook, New York, NY 11794, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3385-184X","authenticated-orcid":false,"given":"Barry Lawrence","family":"Diener","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Renaissance School of Medicine at Stony Brook, Stony Brook, New York, NY 11794, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Berdella","sequence":"additional","affiliation":[{"name":"The Cystic Fibrosis Center, Department of Pulmonary Medicine, Lenox Hill Hospital, Northwell Health, New York, NY 10075, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Sontag, M.K., Miller, J.I., McKasson, S., Gaviglio, A., Martiniano, S.L., West, R., Vazquez, M., Ren, C.L., Farrell, P.M., and McColley, S.A. 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