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Past, present and future of newborn screening in Chile
V Cornejo1, E Raimann, J F Cabello
1Laboratory of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology, INTA, University of Chile, Santiago, Chile. vcornejo@inta.cl
Insights
Chile
Area of Science:
- Public Health
- Pediatrics
- Genetics
Background:
- Chile's Newborn Screening Program began in 1984 with a pilot study.
- A national program for phenylketonuria (PKU) and congenital hypothyroidism (CH) was established in 1992 and expanded nationwide by 1998.
Observation:
- Over 2.4 million newborns have been screened since the program's inception.
- Screening coverage has significantly increased from 48.8% to 98.7%.
Findings:
- 131 cases of PKU diagnosed (incidence 1:18,916), with diagnosis at 18 ± 10.2 days.
- 783 cases of CH confirmed (incidence 1:3,163), with diagnosis at 12.5 ± 6.9 days.
Implications:
- The program's success is leading to consideration of an expanded pilot program for additional conditions.
- Early detection through newborn screening improves health outcomes for infants with genetic disorders.
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.
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