{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:53:52Z","timestamp":1756385632751,"version":"3.37.3"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Cystic fibrosis (CF) is the most common autosomal recessive disorder in the Caucasian population, with an incidence of 1:5000 live births. In 2011, the screening of CF was implemented in the Andalusian Public Health newborn screening program by using immunoreactive trypsinogen and chloride sweat test (IRT\/IRT\/sweat test) determinations. Since then, 79 children have been diagnosed with CF in our health area (Western Andalusia). The aim of this study was to evaluate the efficiency of this screening method and to examinate the characteristics of those CF infants who had a negative screening but who were later diagnosed.<\/jats:p><jats:p>In the 2011\u20132021 period 462,049 newborns were screened for CF using a two\u2010step IRT determination and chloride sweat test. Sixty\u2010three\u00a0infants were diagnosed with CF in our health area thanks to the screening, and 15 CF children had a negative screening result and were finally diagnosed by molecular sequencing of the CFTR gene. The most frequent symptoms that led to the diagnosis of those false negative (FN) patients were hyponatremic dehydration (mean age 9.75\u2009\u00b1\u20091.5 months) and recurrent wheezing (mean age 24\u2009\u00b1\u200914.5 months). The molecular analysis of the CFTR gene on those FN showed a diversity of genotypes, identifying more than 10 different mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The rate of FN patients obtained in this study is inadmissibly high, and the protocol used in this region has not been updated despite the advances in genetic testing in the past 10 years. An improvement on CF newborn screening should be implemented, adding molecular analysis of the CFTR gene.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.26183","type":"journal-article","created":{"date-parts":[[2022,10,5]],"date-time":"2022-10-05T05:38:40Z","timestamp":1664948320000},"page":"2464-2468","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["False negatives in the newborn screening for cystic fibrosis in Western Andalusia: Results from a 10\u2010year experience"],"prefix":"10.1002","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4792-9883","authenticated-orcid":false,"given":"Roc\u00edo","family":"Escudero\u2010\u00c1vila","sequence":"first","affiliation":[{"name":"Unidad de Neumolog\u00eda Pedi\u00e1trica Hospital Infantil Virgen del Roc\u00edo Sevilla Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Delgado\u2010Pecell\u00edn","sequence":"additional","affiliation":[{"name":"Unidad de Metabolopat\u00edas Hospital Universitario Virgen del Roc\u00edo Sevilla Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Jos\u00e9","family":"Moreno\u2010Valera","sequence":"additional","affiliation":[{"name":"Unidad de Neumolog\u00eda Pedi\u00e1trica Hospital Infantil Virgen del Roc\u00edo Sevilla Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Carrasco\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Unidad de Fibrosis Qu\u00edstica Hospital Universitario Virgen del Roc\u00edo Sevilla Espa\u00f1a"},{"name":"CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III Madrid, Espa\u00f1a Sevilla Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Esther","family":"Quintana\u2010Gallego","sequence":"additional","affiliation":[{"name":"Unidad de Fibrosis Qu\u00edstica Hospital Universitario Virgen del Roc\u00edo Sevilla Espa\u00f1a"},{"name":"CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III Madrid, Espa\u00f1a Sevilla Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Delgado\u2010Pecell\u00edn","sequence":"additional","affiliation":[{"name":"Unidad de Fibrosis Qu\u00edstica Hospital Universitario Virgen del Roc\u00edo Sevilla Espa\u00f1a"},{"name":"CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III Madrid, Espa\u00f1a Sevilla Espa\u00f1a"},{"name":"Dpto. de Pediatr\u00eda Universidad de Sevilla Sevilla Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,27]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"29","volume-title":"Gu\u00eda Pr\u00e1ctica para el desarrollo de una unidad multidisciplinar de Fibrosis Qu\u00edstica","author":"Mart\u00ednez F","year":"2020"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11060589"},{"key":"e_1_2_9_4_1","article-title":"Resultados del cribado neonatal de Andaluc\u00eda Occidental tras una d\u00e9cada de experiencia","volume":"94","author":"Delgado\u2010Pecellin C","year":"2020","journal-title":"Rev Esp Salud P\u00fablica"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-1681"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-2135-z"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2010.198"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-6164(93)90013-9"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.08.005"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199109123251104"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70040-4"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2002.tb01646.x"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.24564"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2016.12.012"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.26183","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.26183","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T05:48:55Z","timestamp":1692683335000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.26183"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,27]]},"references-count":13,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/ppul.26183"],"URL":"https:\/\/doi.org\/10.1002\/ppul.26183","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"type":"print","value":"8755-6863"},{"type":"electronic","value":"1099-0496"}],"subject":[],"published":{"date-parts":[[2023,6,27]]},"assertion":[{"value":"2022-02-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}