Neonatal screening. A two-year retrospective study in Mexico, from 2019 to 2020

Abstract

Objective. Congenital diseases are hereditary ‎disorders whose timely detection is vital for early ‎treatment, thus avoiding serious consequences in the ‎future. Material and methods. A retrospective ‎study was made of suspected cases of congenital ‎diseases detected through the neonatal screening in ‎a third level hospital of Toluca, Mexico, from the tear ‎‎2019 to 2020. Results. 30 suspected cases were ‎found between the years 2019-2020, out of a total of ‎‎4384 cases, 18 of which were in 2019 and 12 in ‎‎2020. Concerning the data collected, the disease with ‎the most prevalence was cystic fibrosis occurring in ‎‎14 cases out of 30. Conclusions. The most common ‎congenital metabolic disease in our hospital is cystic ‎fibrosis. This study justifies the need to enhance the ‎neonatal diagnosis of metabolic disorders and the ‎need to take the next step with genetic studies to ‎better characterize the affected population.‎