25 Years of Newborn Screening in Uruguay

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%.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Various health proclamations related to NBS and a challenging transition to heelstick specimens have led now to one of the more comprehensive, universal, free, and equitable screening programs [ 1268 ]. Among other activities, a pilot HGB project [ 1270 ] and an evaluation of newborns with abnormal screening results, including NHS, have recently been reported [ 1271 ], along with a 25-year history of NBS in Uruguay [ 1272 ]. Currently, implementation of a NBS pilot for BIO is planned for 2024 and recently the MOH designated BPS as a national resource center for rare diseases.…”