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Past, present and future of newborn screening in Chile
Author(s) -
Cornejo V.,
Raimann E.,
Cabello J. F.,
Valiente A.,
Becerra C.,
Opazo M.,
Colombo M.
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9165-8
Subject(s) - christian ministry , congenital hypothyroidism , newborn screening , pediatrics , medicine , incidence (geometry) , phenylketonurias , phenylalanine , thyroid , chemistry , philosophy , biochemistry , physics , theology , amino acid , optics
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.