| Past, present and future of newborn screening in Chile. | |
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MedLine Citation:
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PMID: 20683669 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 +/- 10.2 days and average phenylalanine level of 19,9 +/- 8.8 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 +/- 6.9 days. Due to the good results of the program, the government is evaluating the initiation of an extended pilot program, to introduce other pathologies. |
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Authors:
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V Cornejo; E Raimann; J F Cabello; A Valiente; C Becerra; M Opazo; M Colombo |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2010-8-4 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: - ISSN: 1573-2665 ISO Abbreviation: - Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-8-4 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Laboratory of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile, vcornejo@inta.cl. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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