{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:44:10Z","timestamp":1789706650118,"version":"4.0.1"},"reference-count":23,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,8,4]],"date-time":"2010-08-04T00:00:00Z","timestamp":1280880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The history of the Newborn Screening Program in Chile begins in 1984, when a pilot plan was developed that demonstrated the feasibility of its implementation. In 1992, the Ministry of Health started a national newborn screening program for phenylketonuria (PKU) and congenital hypothyroidism (CH), and in 1998, this was extended to the entire country. Throughout this period, a total of 2,478,123 newborns (NB) have been analyzed, obtaining initial coverage of 48.8%, which was later increased to 87.7%, and at present it is at 98.7% of all NB of our country. During this period, 131 cases with PKU have been diagnosed, resulting in an incidence of 1:18,916 NB, an average age of diagnosis of 18\u2009\u00b1\u200910.2 days and average phenylalanine level of 19,9\u2009\u00b1\u20098.8 mg\/dl. In relation to CH, 783 cases have been confirmed, arriving at an incidence of 1:3,163 NB, with average age of diagnosis of 12.5\u2009\u00b1\u20096.9 days. Due to the good results of the program, the government is evaluating the initiation of an extended pilot program, to introduce other pathologies.<\/jats:p>","DOI":"10.1007\/s10545-010-9165-8","type":"journal-article","created":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T09:06:11Z","timestamp":1280826371000},"page":"301-306","source":"Crossref","is-referenced-by-count":24,"title":["Past, present and future of newborn screening in Chile"],"prefix":"10.1002","volume":"33","author":[{"given":"V.","family":"Cornejo","sequence":"first","affiliation":[{"name":"Laboratory of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA) University of Chile Santiago Chile"},{"name":"Laboratorio de Gen\u00e9tica y Enfermedades Metab\u00f3licas, Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos (INTA) Universidad de Chile Av. El L\u00edbano 5524, Macul Santiago 7810000 Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Raimann","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA) University of Chile Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. F.","family":"Cabello","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA) University of Chile Santiago Chile"},{"name":"Laboratory of Metabolic Diseases Hospital Carlos Van Buren Valparaiso Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Valiente","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA) University of Chile Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Becerra","sequence":"additional","affiliation":[{"name":"Program of Child Health and Department of Public Health Policy Ministry of Health of Chile Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Opazo","sequence":"additional","affiliation":[{"name":"Clinical Laboratory of Medical Specialties Regional Clinical Hospital of Concepci\u00f3n, Guillermo Grant Benavente Concepcion Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Colombo","sequence":"additional","affiliation":[{"name":"Laboratory of Metabolic Diseases Hospital Carlos Van Buren Valparaiso Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,8,4]]},"reference":[{"key":"e_1_2_11_2_1","first-page":"345","article-title":"Issues in newborn screening","volume":"89","author":"American Academy of Pediatrics, Committee on Genetics","year":"1992","journal-title":"Pediatrics"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3021"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0666-z"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0669-9"},{"key":"e_1_2_11_6_1","first-page":"1012","article-title":"Impact of expanded newborn screening\u2013United States, 2006","volume":"57","author":"Centers for Disease Control and Prevention (CDC)","year":"2008","journal-title":"Morb Mortal Wkly Rep"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.4067\/S0370-41061988000400001"},{"key":"e_1_2_11_8_1","first-page":"1","volume-title":"Tesis para optar al grado de Magister en Nutrici\u00f3n Humana INTA","author":"Cornejo V","year":"1986"},{"key":"e_1_2_11_9_1","first-page":"309","article-title":"Programa de rastreo neonatal de fenilquetonuria","volume":"61","author":"Cornejo V","year":"1990","journal-title":"Rev Chil Pediatr"},{"key":"e_1_2_11_10_1","first-page":"259","article-title":"Diagnosis and follow up of 23 children with organic acidurias","volume":"130","author":"Cornejo V","year":"2002","journal-title":"Rev Med Chile"},{"key":"e_1_2_11_11_1","unstructured":"CornejoV RaimannE ColomboM(2003)Implementaci\u00f3n y desarrollo de los programas de detecci\u00f3n neonatal. 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