Your browser doesn't support javascript.
loading
Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.
Torres-Sepúlveda, María Del Rosario; Martínez de Villarreal, Laura E; Villarreal-Pérez, Jesús Zacarías; Ruiz Herrera, María Del Consuelo; Arredondo Vázquez, Patricia Del Carmen; Treviño-Morales, Ana Karen.
Afiliação
  • 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.
Glob Pediatr Health ; 11: 2333794X241280830, 2024.
Article em En | MEDLINE | ID: mdl-39315058
ABSTRACT
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 1773, 1962, 14277, 14476, 111,322, 110,693, 110,693, 138,497, and 164,162, 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.
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE País/Região como assunto: Mexico Idioma: En Revista: Glob Pediatr Health Ano de publicação: 2024 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE País/Região como assunto: Mexico Idioma: En Revista: Glob Pediatr Health Ano de publicação: 2024 Tipo de documento: Article País de publicação: Estados Unidos