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.

Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador

“…This implies that the NBS program no the same quality in all the provinces. It is important to improve the epidemiological surveillance system that collects patients who are diagnosed outside of the neonatal metabolic screening and gather data of cases that escape the diagnosis of neonatal screening [26]. However, for subsequent studies, it is important to continually evaluate and search for the best diagnostic option and the best tools for improving program efficiency.…”

Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward

“…Applying a human rights frame to the current debate favors expanding access to established NBS methods that have shown to be clinically effective, and which enable more children to directly benefit from proven methods. Ensuring universal access to high quality NBS irrespective of birthplace, gender and income, however, continues to be a global challenge ( Krotoski et al, 2009 ; Borrajo, 2021 ).…”

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies

“…Latin America comprises of 20 countries that represent a great diversity not only in terms of geography but also demographics, economies, languages, ethnicities, and health care systems [ 5 ]. In a recent review from Borrajo [ 6 ], newborn screening (NBS) programs were distinctively implemented in Latin America. While some programs date back from the 1980’s, other countries are still implementing regional NBS programs.…”