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2023, Number 6

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Rev Mex Pediatr 2023; 90 (6)

Results of the metabolic screening program in a private hospital in Mexico City

Velasco-Aznar A, Rendón-Macías ME, Silva-Ramírez H, Gerardo-Del HMN, Cruz-Camino H, Cantú-Reyna C, Moscona-Nissan A, Wollenstein-Seligson D

Language: Spanish
References: 37
Page: 221-226
PDF size: 400.43 Kb.


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.


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