Abstract
In the 1960s Guthrie conceived the idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able to treat environmental factors in time to avoid the devastating effect of the diseases. Uruguay started in 1994 with the detection of congenital hypothyroidism in umbilical cord blood. In 2007 it was extended to Phenylketonuria and Congenital Adrenal Hyperplasia, starting with dried blood spot sample. In 2008, with the incorporation of Mass Spectrometry, a pilot program was started for the detection of aminoacidopathies, beta-oxidation defects and organic acidemias disorders. In the following years, the program expanded to more diseases, reaching a total of 25 disorders that could be detected, 5 of them are investigated on a mandatory basis and others in pilot program. During the 25-year of experience, 974277 umbilical cord blood samples were analyzed and since 2007: 532684 dried blood spot samples. 613 true positive congenital disorders were identified. The coverage has been greater than 98% and the repetition rate for insufficient samples less than 1.9%.
Highlights
From the 60s, worldwide, the implementation of strategies for the prevention of congenital diseases began
It is a country with a low birth rate, which means that each child has an inestimable value for the future of our society.[2]
The purpose of this paper is to describe the development and the results of the Newborn Screening System (NNSS) from Uruguay since its implementation, 25 years ago
Summary
From the 60s, worldwide, the implementation of strategies for the prevention of congenital diseases began They do not present clinical symptoms at birth, there are biochemical tests that detect this disorders early. Starting in the 1990s, the incorporation of tandem mass spectrometry (MS/ MS) for neonatal screening revolutionized diagnostic capacity by allowing multiple metabolites to be obtained from a single blood sample It is at this stage that Latin America discreetly begins to incorporate this practice into Public Health.[1]. Uruguay has been characterized by developing public policies for the protection of children by promoting programs for the prevention of childhood diseases It is a country with a low birth rate (approximately 45,000 births / year), which means that each child has an inestimable value for the future of our society.[2]
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