{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T10:05:21Z","timestamp":1793613921349,"version":"4.5.0"},"reference-count":30,"publisher":"European Respiratory Society (ERS)","issue":"2","content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["ERJ Open Res"],"accepted":{"date-parts":[[2018,2,16]]},"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Newborn screening (NBS) for cystic fibrosis (CF) has been gradually established in several countries, but scant data are available on its long-term effects on survival. Our objective was to evaluate the long-term effects of CF NBS on survival.<\/jats:p><jats:p>586 patients, diagnosed and followed between 1971 and 2014 at the Verona CF Centre were analysed. Eligibility was confirmed in 342 cases diagnosed by NBS, 101 with meconium ileus and 143 through symptoms (44 out of 143 were NBS false negatives). The primary end-point was the 30-year overall survival in patients diagnosed by NBS. Patients were grouped according to the number of hospitalisations for respiratory or nutritional symptoms in the first 3\u2005years of life: 0 (mild), 1\u20132 (moderate) and \u22653 (severe). Survival in NBS and symptoms groups was compared.<\/jats:p><jats:p>The 30-year survival probability of the NBS group was 80.1% (95% CI 71.4\u201386.4%); in the symptoms group it was 71.0% (95% CI 62.2\u201378.2%). The 20-year survival was significantly higher in the NBS<jats:italic>versus<\/jats:italic>symptoms group in the severe (85%<jats:italic>versus<\/jats:italic>64%, p=0.007) and moderate (94%<jats:italic>versus<\/jats:italic>86%, p=0.016) groups. An adjusted Cox-model estimation confirmed differences in both the groups.<\/jats:p><jats:p>Poor outcome associated with early severe presentation of CF is tempered by NBS.<\/jats:p>","DOI":"10.1183\/23120541.00109-2017","type":"journal-article","created":{"date-parts":[[2018,4,20]],"date-time":"2018-04-20T09:55:10Z","timestamp":1524218110000},"page":"00109-2017","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":43,"title":["Early diagnosis from newborn screening maximises survival in severe cystic fibrosis"],"prefix":"10.1183","volume":"4","author":[{"given":"Gloria","family":"Tridello","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Castellani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Meneghelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Tamanini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baroukh M.","family":"Assael","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2018,4,20]]},"reference":[{"key":"2024101707075491000_4.2.00109-2017.1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.49.8.597"},{"key":"2024101707075491000_4.2.00109-2017.2","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":"2024101707075491000_4.2.00109-2017.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2006.05.008"},{"key":"2024101707075491000_4.2.00109-2017.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2009.01.004"},{"key":"2024101707075491000_4.2.00109-2017.5","doi-asserted-by":"crossref","first-page":"67","DOI":"10.5694\/mja11.10686","article-title":"Lessons learned from 20 years of newborn screening for cystic fibrosis","volume":"196","author":"Massie","year":"2012","journal-title":"Med J Aust"},{"key":"2024101707075491000_4.2.00109-2017.6","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9117-3"},{"key":"2024101707075491000_4.2.00109-2017.7","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)60565-0"},{"key":"2024101707075491000_4.2.00109-2017.8","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-1498"},{"key":"2024101707075491000_4.2.00109-2017.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.08.014"},{"key":"2024101707075491000_4.2.00109-2017.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.08.012"},{"key":"2024101707075491000_4.2.00109-2017.11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199710023371403"},{"key":"2024101707075491000_4.2.00109-2017.12","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2011-300449"},{"key":"2024101707075491000_4.2.00109-2017.13","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwf064"},{"key":"2024101707075491000_4.2.00109-2017.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.07.046"},{"key":"2024101707075491000_4.2.00109-2017.15","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2009.1758"},{"key":"2024101707075491000_4.2.00109-2017.16","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/j.1651-2227.1997.tb08920.x","article-title":"Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity","volume":"86","author":"Castellani","year":"1997","journal-title":"Acta Paediatr"},{"key":"2024101707075491000_4.2.00109-2017.17","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/BF00208963","article-title":"Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations","volume":"95","author":"Bonizzato","year":"1995","journal-title":"Hum Genet"},{"key":"2024101707075491000_4.2.00109-2017.18","unstructured":"Cystic Fibrosis Canada. Canadian Cystic Fibrosis Patient Data Registry 2010 Report. www.cysticfibrosisdata.org\/LiteratureRetrieve.aspx?ID=132669"},{"key":"2024101707075491000_4.2.00109-2017.19","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00099506"},{"key":"2024101707075491000_4.2.00109-2017.20","unstructured":"Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Patient Registry, 2012 Annual Data Report. Bethesda, Cystic Fibrosis Foundation, 2013."},{"key":"2024101707075491000_4.2.00109-2017.21","doi-asserted-by":"publisher","DOI":"10.5694\/mja10.11229"},{"key":"2024101707075491000_4.2.00109-2017.22","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.jpeds.2016.10.045","article-title":"Differences in outcomes between early and late diagnosis of cystic fibrosis in the newborn screening era","volume":"181","author":"Coffey","year":"2017","journal-title":"J Pediatr"},{"key":"2024101707075491000_4.2.00109-2017.23","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwh083"},{"key":"2024101707075491000_4.2.00109-2017.24","doi-asserted-by":"publisher","DOI":"10.1542\/peds.107.1.1"},{"key":"2024101707075491000_4.2.00109-2017.25","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-2832"},{"key":"2024101707075491000_4.2.00109-2017.26","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3089"},{"key":"2024101707075491000_4.2.00109-2017.27","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a009548"},{"key":"2024101707075491000_4.2.00109-2017.28","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1301725"},{"key":"2024101707075491000_4.2.00109-2017.29","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1164\/rccm.201606-1107CI","article-title":"Early lung disease in infants and pre-school children with cystic fibrosis. What have we learned and what should we do about it?","volume":"195","author":"Ranganathan","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"key":"2024101707075491000_4.2.00109-2017.30","doi-asserted-by":"crossref","first-page":"S45","DOI":"10.1016\/j.jpeds.2016.09.066","article-title":"Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome and cystic fibrosis screen positive, inconclusive diagnosis","volume":"181S","author":"Ren","year":"2017","journal-title":"J Pediatr"}],"container-title":["ERJ Open Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/23120541.00109-2017","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T04:55:41Z","timestamp":1740372941000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/23120541.00109-2017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":30,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,4,20]]},"published-print":{"date-parts":[[2018,4]]}},"alternative-id":["10.1183\/23120541.00109-2017"],"URL":"https:\/\/doi.org\/10.1183\/23120541.00109-2017","relation":{},"ISSN":["2312-0541"],"issn-type":[{"value":"2312-0541","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4]]}}}