{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T17:42:18Z","timestamp":1791308538232,"version":"4.3.1"},"reference-count":25,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:00:00Z","timestamp":1639180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Jornal de Pediatria"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1016\/j.jped.2021.11.007","type":"journal-article","created":{"date-parts":[[2021,12,22]],"date-time":"2021-12-22T18:04:52Z","timestamp":1640196292000},"page":"419-424","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical complications in children with false-negative results in cystic fibrosis newborn screening"],"prefix":"10.1016","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7297-5091","authenticated-orcid":false,"given":"Katarzyna","family":"Zybert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3845-9362","authenticated-orcid":false,"given":"Urszula","family":"Borawska-Kowalczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8702-3808","authenticated-orcid":false,"given":"Lukasz","family":"Wozniacki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6291-5228","authenticated-orcid":false,"given":"Malwina","family":"Dawidziuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3353-723X","authenticated-orcid":false,"given":"Mariusz","family":"O\u0142tarzewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4601-5158","authenticated-orcid":false,"given":"Dorota","family":"Sands","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jped.2021.11.007_bib0001","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/S0140-6736(79)90825-0","article-title":"Dried-blood spot screening for cystic fibrosis in the newborn","volume":"1","author":"Crossley","year":"1979","journal-title":"Lancet"},{"key":"10.1016\/j.jped.2021.11.007_bib0002","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":"10.1016\/j.jped.2021.11.007_bib0003","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1126\/science.2772657","article-title":"Identification of the cystic fibrosis gene: chromosome walking and jumping","volume":"245","author":"Rommens","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.jped.2021.11.007_bib0004","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1126\/science.2570460","article-title":"Identification of the cystic fibrosis gene: genetic analysis","volume":"245","author":"Kerem","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.jped.2021.11.007_bib0005","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jcf.2016.12.012","article-title":"The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe","volume":"16","author":"Barben","year":"2017","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.jped.2021.11.007_bib0006","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.jcf.2013.06.003","article-title":"Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations","volume":"13","author":"Sommerburg","year":"2014","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.jped.2021.11.007_bib0007","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":"181S","author":"Farrell","year":"2017","journal-title":"J Pediatr"},{"key":"10.1016\/j.jped.2021.11.007_bib0008","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1542\/peds.107.1.1","article-title":"Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group","volume":"107","author":"Farrell","year":"2001","journal-title":"Pediatrics"},{"key":"10.1016\/j.jped.2021.11.007_bib0009","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1164\/rccm.200303-434OC","article-title":"Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis","volume":"168","author":"Farrell","year":"2003","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jped.2021.11.007_bib0010","article-title":"Newborn screening for cystic fibrosis","volume":"2009","author":"Southern","year":"2009","journal-title":"Cochrane Database Syst Rev"},{"key":"10.1016\/j.jped.2021.11.007_bib0011","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1002\/ppul.21509","article-title":"Factors accounting for a missed diagnosis of cystic fibrosis after newborn screening","volume":"46","author":"Rock","year":"2011","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.jped.2021.11.007_bib0012","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.jcf.2008.03.009","article-title":"Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice","volume":"7","author":"Castellani","year":"2008","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.jped.2021.11.007_bib0013","first-page":"16","article-title":"Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience","volume":"19","author":"Sands","year":"2015","journal-title":"Dev Period Med"},{"key":"10.1016\/j.jped.2021.11.007_bib0014","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/ejhg.2012.180","article-title":"Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy","volume":"21","author":"Sobczynska-Tomaszewska","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jped.2021.11.007_bib0015","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.jpeds.2007.03.002","article-title":"Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines","volume":"151","author":"LeGrys","year":"2007","journal-title":"J Pediatr"},{"key":"10.1016\/j.jped.2021.11.007_bib0016","doi-asserted-by":"crossref","first-page":"46","DOI":"10.3390\/ijns6020046","article-title":"Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia","volume":"6","author":"Sinclair","year":"2020","journal-title":"Int J Neonatal Screen"},{"key":"10.1016\/j.jped.2021.11.007_bib0017","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1016\/j.jcf.2021.02.006","article-title":"Defining key outcomes to evaluate performance of newborn screening programmes for cystic fibrosis","volume":"20","author":"Munck","year":"2021","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.jped.2021.11.007_bib0018","doi-asserted-by":"crossref","first-page":"446","DOI":"10.3390\/diagnostics10070446","article-title":"Clinical and genotypical features of false-negative patients in 26 years of cystic fibrosis neonatal screening in Tuscany, Italy","volume":"10","author":"Taccetti","year":"2020","journal-title":"Diagnostics (Basel)"},{"key":"10.1016\/j.jped.2021.11.007_bib0019","first-page":"41","article-title":"Clinical status and somatic development of patients with or without meconium ileus diagnosed through neonatal screening for cystic fibrosis","volume":"19","author":"Zybert","year":"2015","journal-title":"Dev Period Med"},{"key":"10.1016\/j.jped.2021.11.007_bib0020","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/j.jpedsurg.2012.02.019","article-title":"A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon","volume":"47","author":"Carlyle BE","year":"2012","journal-title":"J Pediatr Surg"},{"key":"10.1016\/j.jped.2021.11.007_bib0021","doi-asserted-by":"crossref","first-page":"458","DOI":"10.3390\/genes12030458","article-title":"Phenotypic presentations of cystic fibrosis in children of African descent","volume":"12","author":"Mayer Lacrosniere","year":"2021","journal-title":"Genes"},{"key":"10.1016\/j.jped.2021.11.007_bib0022","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.jcf.2018.02.006","article-title":"ECFS best practice guidelines: the 2018 revision","volume":"17","author":"Castellani","year":"2018","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.jped.2021.11.007_bib0023","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1007\/s00431-013-2135-z","article-title":"False negative newborn screen and neonatal cholestasis in a premature child with cystic fibrosis","volume":"173","author":"Heidendael","year":"2014","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jped.2021.11.007_bib0024","doi-asserted-by":"crossref","first-page":"e446","DOI":"10.1542\/peds.2010-0286","article-title":"The need for vigilance: the case of a false-negative newborn screen for cystic fibrosis","volume":"128","author":"Dunn","year":"2011","journal-title":"Pediatrics"},{"key":"10.1016\/j.jped.2021.11.007_bib0025","article-title":"Newborn screening saves lives but cannot replace the need for clinical vigilance","volume":"2018","author":"Neemuchwala","year":"2018","journal-title":"Case Rep Pediatr"}],"container-title":["Jornal de Pediatria"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755721001698?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755721001698?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T23:23:35Z","timestamp":1758151415000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021755721001698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["S0021755721001698"],"URL":"https:\/\/doi.org\/10.1016\/j.jped.2021.11.007","relation":{},"ISSN":["0021-7557"],"issn-type":[{"value":"0021-7557","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical complications in children with false-negative results in cystic fibrosis newborn screening","name":"articletitle","label":"Article Title"},{"value":"Jornal de Pediatria","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jped.2021.11.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda.","name":"copyright","label":"Copyright"}]}}