title: Past, present and future of newborn screening in Chile.
abstract: 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.
authors.affiliation: Laboratory of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology, INTA, University of Chile, Santiago, Chile. vcornejo@inta.cl
authors.forename: V
authors.initials: V
authors.lastname: Cornejo
authors.forename: E
authors.initials: E
authors.lastname: Raimann
authors.forename: J F
authors.initials: JF
authors.lastname: Cabello
authors.forename: A
authors.initials: A
authors.lastname: Valiente
authors.forename: C
authors.initials: C
authors.lastname: Becerra
authors.forename: M
authors.initials: M
authors.lastname: Opazo
authors.forename: M
authors.initials: M
authors.lastname: Colombo
mesh_terms: D015415:Biomarkers / Q000097:blood; D002677:Chile / Q000453:epidemiology; D003409:Congenital Hypothyroidism / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D059788:Dried Blood Spot Testing; D005544:Forecasting; D020022:Genetic Predisposition to Disease; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000266:history / Q000639:trends; D010641:Phenotype; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D011237:Predictive Value of Tests; D011379:Prognosis; D016730:Program Development; D015397:Program Evaluation; D013963:Thyroid Hormones / Q000097:blood; D013997:Time Factors
chemical_list: D015415:Biomarkers; D013963:Thyroid Hormones; D010649:Phenylalanine