Newborn screening in Latin America: A brief overview of the state of the art.

Abstract

Latin America is a region consisting of 20 countries that present a wide diversity in terms of a geographic area as well as demographics, ethnicity, economy, social, and healthcare systems. This diversity also applies to the newborn screening (NBS) activities, as demonstrated by the start dates and modalities of implementation as organized programs, the panel of diseases screened for, the available technologies for testing, the coverage, the legislation in force, and the degree of development and success reached. Based on these characteristics, Latin American countries can currently be classified into five groups ranging from fully established national programs to no program at all. Sixteen countries have national or regional NBS programs, but up to date only 14 are actively working. The other 2 have organized programs conducted by different health services providers, but without any unified national coordination. Only six countries have coverage ≥ 90% and 12 ≥ 70%. Thirteen countries have legislation in force defining NBS as mandatory. The 16 countries that have active NBS programs screen for congenital hypothyroidism, 14 for phenylketonuria, 12 for congenital adrenal hyperplasia and cystic fibrosis, and 8 for galactosemia. NBS by tandem mass spectrometry is implemented at a national level only in two countries. Despite these disparities, sustained and significant growth has become evident in the last decade, highlighted by the implementation of new programs, the increase in coverage, the expansion of the panel diseases, the enactment of new NBS laws, and the increasing involvement of government and public health authorities.