25 Years of Newborn Screening in Uruguay

In the 1960s Guthrie conceived idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able treat environmental factors in time avoid devastating effect diseases. Uruguay started 1994 with detection hypothyroidism umbilical cord blood. 2007 it was extended Phenylketonuria Congenital Adrenal Hyperplasia, starting sample. 2008, incorporation Mass Spectrometry, a pilot program for aminoacidopathies, beta-oxidation defects organic acidemias disorders. following years, expanded more diseases, reaching total 25 disorders that could detected, 5 are investigated mandatory basis others program. During 25-year experience, 974277 were analyzed since 2007: 532684 samples. 613 true positive identified. The coverage has been greater than 98% repetition rate insufficient less 1.9%.