Incidencia de errores innatos del metabolismo y otros trastornos detectados en un programa de cribado metabólico neonatal ampliado de un grupo mexicano de hospitales

Héctor Cruz Camino, Enrique Adrián Martínez Cervantes, Consuelo Cantú Reyna, Diana Vázquez Cantú, Alexandra Zea Rey, René Gómez Gutiérrez, José Vera Delgado

Research output: Contribution to journalArticlepeer-review

Abstract

Title: Incidence of inborn errors of metabolism and other diseases detected in a newborn screening program within a group
of Mexican private hospitals
Introduction: The detection of inborn errors of metabolism (IEM),
endocrinopathies, hemoglobinopathies, and other disorders
through newborn screening (NBS) is a global health initiative
that began until 1973 in Mexico. The national incidence of this
group of diseases is uncertain due to the lack of NBS programs
and related publications. For the present manuscript, the incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was estimated from
an NBS program implemented in a private group of hospitals part
of Grupo Christus Muguerza located northeast of Mexico.
Material and methods: This retrospective study included the examination of 19,768 newborns’ results obtained from the NBS
program from March 2006 to February 2017.
Results: The NBS program found 60 newborns with an IEM or
other disorder and 104 were identified as carriers, with an incidence of 30.4 and 52.7 per 10,000 newborns, respectively. The
most frequent diagnosis was glucose-6-phosphate dehydrogenase deficiency (G6PD); and in the case of carriers, were hemoglobinopathies. The combination of screening technologies
showed a specificity of 99.95%, a sensitivity close to 100%, and
a positive predictive value of 86.96%.
Conclusions: The benefit of an NBS program is to stablish an
early diagnosis to offer prompt treatment and proper genetic
counseling. Furthermore, these results provide an estimation of
IEM, endocrinopathies, hemoglobinopathies, and other disorders
incidence in a group of private hospitals in Mexico.
Original languageEnglish
JournalActa Pediatrica Espanola
Volume78
Issue number3-4
Publication statusPublished - 1 Apr 2020

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