{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T05:03:10Z","timestamp":1771045390385,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T00:00:00Z","timestamp":1719532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["K23\u2010HL133437\u201005"],"award-info":[{"award-number":["K23\u2010HL133437\u201005"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Newborn screening (NBS) for cystic fibrosis (CF) is universal in the United States. Protocols vary but include an immunoreactive trypsinogen (IRT) level and <jats:italic>CFTR<\/jats:italic> variant panel. California CF NBS has a 3\u2010step screening: IRT level, variant panel, and <jats:italic>CFTR<\/jats:italic> sequencing if only one variant identified on panel.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a cohort study of infants with CF born in California (2007\u22122021) to examine racial and ethnic differences in having a false\u2010negative NBS result for CF and at which step the false\u2010negative occurred. We examined how different <jats:italic>CFTR<\/jats:italic> variant panels would improve detection of variants by race and ethnicity: original 39\u2010variant panel, current 75\u2010variant panel, and all 402 disease\u2010causing <jats:italic>CFTR<\/jats:italic> variants in the CFTR2 database.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 912 infants born in California with CF, 84 had a false\u2010negative result: 38 due to low IRT level and 46 with a high IRT value (but incomplete variant detection). Asian (OR 6.3) and Black infants (OR 2.5) were more likely to have a false\u2010negative screening result than non\u2010Hispanic white infants. The majority of false\u2010negative screening (but CF diagnosis) cases among American Indian\/Native Alaskan and non\u2010Hispanic White infants were due to low IRT levels. The majority of Asian and Hispanic infants with false\u2010negative screening had no variants detected. Detection of two <jats:italic>CFTR<\/jats:italic> variants was improved with the 75\u2010variant panel in Black, Hispanic, and non\u2010Hispanic White infants and with the 402\u2010variant panel in Black, Hispanic, non\u2010Hispanic White, and other race infants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Larger <jats:italic>CFTR<\/jats:italic> panels in NBS improved the detection of CF in all races and ethnicities.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.27155","type":"journal-article","created":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T11:03:53Z","timestamp":1719572633000},"page":"2901-2909","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8562-7018","authenticated-orcid":false,"given":"Meghan E.","family":"McGarry","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pulmonary and Sleep Medicine University of Washington Seattle Washington USA"},{"name":"Center for Respiratory Biology and Therapeutics Seattle Children's Research Institute Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6191-8179","authenticated-orcid":false,"given":"Stanley","family":"Sciortino","sequence":"additional","affiliation":[{"name":"Center for Respiratory Biology and Therapeutics Seattle Children's Research Institute Seattle Washington USA"},{"name":"California Department of Public Health Genetic Disease Screening Program Richmond California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Graham","sequence":"additional","affiliation":[{"name":"California Department of Public Health Genetic Disease Screening Program Richmond California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracey","family":"Bishop","sequence":"additional","affiliation":[{"name":"California Department of Public Health Genetic Disease Screening Program Richmond California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth R.","family":"Gibb","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pulmonary Medicine University of California San Francisco San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199109123251104"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90145-5"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.09.022"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-0096"},{"key":"e_1_2_8_6_1","doi-asserted-by":"crossref","unstructured":"RenC RehaniMR MarcusMS HarrisAB FarrellP. 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