Page 57 - Read Online

Gonzaga-Jauregui et al. Rare Dis Orphan Drugs J 2024;3:16 Rare Disease and
DOI: 10.20517/rdodj.2024.02
Orphan Drugs Journal

Perspective Open Access

Newborn screening in Mexico and Latin America:
present and future

2,4
3
Claudia Gonzaga-Jauregui 1,2 , Rodrigo Moreno-Salgado , Jacqueline Tovar-Casas , Juana Inés
Navarrete-Martínez 5
1
International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano
(LIIGH), Universidad Nacional Autónoma de México (UNAM), Querétaro 76230, México.
2
Colaborativa Para Enfermedades Poco Frecuentes en el Caribe y América Latina (CEPCAL), Querétaro 76230, México.
3
Department of Genetics, Hospital Infantil de México Federico Gómez, Mexico City 06720, Mexico.
4
Iniciativa Pensemos en Cebras México, Mexico City 56586, Mexico.
5
Department of Genetics, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City 14140, Mexico.
Correspondence to: Dr. Claudia Gonzaga-Jauregui, International Laboratory for Human Genome Research, Laboratorio
Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Blvd. Juriquilla
3001, Juriquilla, Querétaro 76230, México. E-mail: cgonzaga@liigh.unam.mx
How to cite this article: Gonzaga-Jauregui C, Moreno-Salgado R, Tovar-Casas J, Navarrete-Martínez JI. Newborn screening in
Mexico and Latin America: present and future. Rare Dis Orphan Drugs J 2024;3:16. https://dx.doi.org/10.20517/rdodj.2024.02
Received: 8 Jan 2024 First Decision: 22 Feb 2024 Revised: 25 Apr 2024 Accepted: 4 Jun 2024 Published: 24 Jun 2024

Academic Editors: Daniel Scherman, Virginie Bros-Facer Copy Editor: Fangyuan Liu Production Editor: Fangyuan Liu

Abstract
The first newborn screening (NBS) program to be implemented in Latin America was in Mexico in 1974, eleven
years after the initial NBS programs in other parts of the world. In the last 50 years, progress has been made in
implementing and expanding NBS in Mexico and across Latin America, yet children across the region do not fully
benefit from this effective public health strategy. Here, we review the progress in the implementation of expanded
NBS in Latin America with a focus on Mexico and the challenges faced by its complex healthcare system. In light of
new technologies such as genomic sequencing and their potential utilization for NBS, we discuss what the future of
NBS may be for Mexico and countries in Latin America and the Caribbean region, given economic and
technological constraints.

Keywords: Neonatal screening, NBS, ENBS, gNBS, genetic diseases, early diagnosis, precision health

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

www.oaepublish.com/rdodj