Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.

Autor:	Torres-Sepúlveda MDR; Universidad Autónoma de Nuevo León, Departamento de Genética, Facultad de Medicina y Hospital Universitario Dr. José Eleuterio González, Monterrey, Nuevo León, México., Martínez de Villarreal LE; Universidad Autónoma de Nuevo León, Departamento de Genética, Facultad de Medicina y Hospital Universitario Dr. José Eleuterio González, Monterrey, Nuevo León, México., Villarreal-Pérez JZ; Universidad Autónoma de Nuevo León, Servicio de Endocrinología, Facultad de Medicina y Hospital Universitario Dr. José E. González, Monterrey, Nuevo León, México., Ruiz Herrera MDC; Universidad Autónoma de Nuevo León, Departamento de Genética, Facultad de Medicina y Hospital Universitario Dr. José Eleuterio González, Monterrey, Nuevo León, México., Arredondo Vázquez PDC; Departmento de Epidemiología, Jurisdicción Sanitaria No. 2. Servicios de Salud de Nuevo León, Monterrey, Nuevo León, México., Treviño-Morales AK; Universidad Autónoma de Nuevo León, Departamento de Genética, Facultad de Medicina y Hospital Universitario Dr. José Eleuterio González, Monterrey, Nuevo León, México.
Jazyk:	angličtina
Zdroj:	Global pediatric health [Glob Pediatr Health] 2024 Sep 20; Vol. 11, pp. 2333794X241280830. Date of Electronic Publication: 2024 Sep 20 (Print Publication: 2024).
DOI:	10.1177/2333794X241280830
Abstrakt:	Objectives . To describe the results of a 16-year experience of a state-coverage expanded newborn screening program (NBSP) in Northeast México. Methods . Between 2002 and 2017, dried blood spots of newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), biotinidase deficiency, galactosemia, cystic fibrosis, and glucose-6-phosphate dehydrogenase (G6PD) deficiency via immunofluorescence and amino and fatty acid disorders and organic acidemias using tandem mass spectrometry. Frequency rates were determined. Results . Overall, 192 487 samples were processed; 99.4% had negative results, and 598 were diagnosed. The frequency was 3.01/1000 newborns. G6PD deficiency, CH, amino acidemia, organic acidemia, cystic fibrosis, CAH, fatty acid oxidation disorder, galactosemia, and biotinidase deficiency cases were 1:773, 1:962, 1:4277, 1:4476, 1:11,322, 1:10,693, 1:10,693, 1:38,497, and 1:64,162, respectively. Conclusion . Using different technologies in NBSP increased the number of conditions detected, facilitating infant morbidity and mortality prevention. The frequency of disorders depends on the population's genetic background and diagnostic capacity. Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. (© The Author(s) 2024.)
Databáze:	MEDLINE
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