1. Resultados del programa de tamiz metabólico en un hospital privado de la Ciudad de México.
- Author
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Velasco-Aznar, Alfonso, Enrique Rendón-Macías, Mario, Silva-Ramírez, Horacio, Gerardo-Del Hoyo, Moisés Noé, Cruz-Camino, Héctor, Cantú-Reyna, Consuelo, Moscona-Nissan, Alberto, and Wollenstein-Seligson, Diana
- Subjects
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METABOLIC disorders , *HOSPITALS , *HYPOTHYROIDISM , *DEHYDROGENASES , *NEWBORN infants - Abstract
Introduction: the neonatal metabolic screen is a tool that allows identifying patients with different diseases, from preclinical stages Objective: to report the birth prevalence of metabolic diseases detected through the expanded neonatal metabolic screening program of a private hospital in Mexico City. Material and methods: cross-sectional and descriptive study, which includes the results of all screening studies performed on newborns, over a seven-year period (2016-2023). Blood samples were taken by puncture between the second and fifth day of life. Rates are presented in cases per 10,000 live births. Results: during the period, 10,442 newborns were studied. A specific disease was identified in 41 (0.4%) patients, while carrier states of different diseases were detected in 77. The diseases diagnosed were: glucose-6 dehydrogenase deficiency (rate 31.6), congenital hypothyroidism (rate 2.8), phenylketonuria (rate 1.9), tyrosinemia (rate 0.95), short-chain acyl-CoA dehydrogenase deficiency (rate 0.95), and cystic fibrosis (rate 0.95). Conclusions: the prevalence of diseases detected by neonatal screening obtained in the present study is similar to that previously reported in Mexico, with the exception of glucose 6 dehydrogenase deficiency, which is higher. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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