Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador

Abstract

The newborn screening program in Ecuador has been operating since 2011 under the responsibility of the Ministry of Health. This program is centralized and diagnoses four diseases: congenital hypothyroidism, phenylketonuria, galactosemia, and congenital adrenal hyperplasia. This study aimed to assess the geographical distribution of newborn screening cases in Ecuador. Spatial analysis techniques were applied using the records of the National Newborn Screening Program with a congenital disease confirmed from January 2012 to December 2019. Morbidity rates per 100,000 were calculated by newborn screening disease detected and the province of birth, posteriorly, the map of its distribution was graphed and assessed using the QGIS 3.12 software. In total, 393 cases born confirmed between 2012 and 2019 were registered. The distribution of every disease tends to be different in all provinces in Ecuador; the spatial variation was significant and relative rates showed a higher incidence in some eastern provinces. In conclusion, we found a different distribution and rates of newborn screening disorders in Ecuador. The high incidence of congenital hypothyroidism, phenylketonuria, galactosemia, and congenital adrenal hyperplasia in some areas should be investigated, due could be related to ethnic, genetic, and cultural aspects of the population.

Advances and Challenges in Classical Galactosemia. Pathophysiology and Treatment

“…In Latin-American countries, newborn screening is highly heterogeneous and limited information has been reported, in most cases pilot or short-term studies [3-6]. However, in Cuba and Ecuador, there are estimated reports of 1:101.065, and 1:131.579 respectively [7][8]. In Western countries, the reported incidence varies from 1: 16,000 to 1: 60,000 live births, reaching up to 1:480 in specific Irish population groups [9][10][11].…”