Editorial Letter to the Special Issue on Newborn Screening in Latin America (Commemorating the Silver Jubilee of the Latin American Society for Inborn Errors of Metabolism and Neonatal Screening - SLEIMPN)

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

“…Later, national programs were implemented in Costa Rica (1990), Chile (1992) and Uruguay (1994) ( Borrajo, 2007 ). Several other countries followed the same path and now NBS is a public health strategy covering a significant part of the newborns in the region, albeit with notable differences in terms of access, scope, and technologies ( Queiruga et al, 2021 ).…”

“…At a national level, assays for amino acids and acylcarnitines by TMS are implemented in only two countries, Costa Rica and Uruguay ( Borrajo, 2007 ). Considering the countries with official NBS programs and their coverage percentage ( Borrajo, 2007 ; Queiruga et al, 2021 ), it is possible to estimate that around 7.2 million newborns are screened per year in LATAM, representing approximately 72% of total births ( US Census Bureau, 2021 ). An overview of major NBS programs in the world and LATAM is provided in Supplementary Table S1 and summarized in Figure 1 .…”

“…Later, national programs were implemented in Costa Rica (1990), Chile (1992 and Uruguay (1994) (Borrajo, 2007). Several other countries followed the same path and now NBS is a public health strategy covering a significant part of the newborns in the region, albeit with notable differences in terms of access, scope, and technologies (Queiruga et al, 2021). Borrajo classified the NBS status of LATAM countries considering the following indicators: start dates, implementation modalities as organized programs, the panel of diseases screened, available testing technologies, coverage, legislation, and degree of development and success reached (Borrajo, 2007).…”