Neonatal screening. A two-year retrospective study

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.