Past, present and future of newborn screening in Chile.
J Inherit Metab Dis
; 33 Suppl 3: S301-6, 2010 Dec.
Article
en En
| MEDLINE
| ID: mdl-20683669
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 118,916 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 13,163 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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenilcetonurias
/
Tamizaje Neonatal
/
Hipotiroidismo Congénito
Tipo de estudio:
Diagnostic_studies
/
Evaluation_studies
/
Incidence_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
/
Newborn
País/Región como asunto:
America do sul
/
Chile
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2010
Tipo del documento:
Article
País de afiliación:
Chile