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.
Highlights
The newborn screening (NBS) is a preventive health program for early identification of disorders that can hinder their normal development or cause premature death [1]
This study described the spatial distribution of individuals with an inborn metabolic disease by using data from the Newborn Screening Program in Ecuador between 2012 and 2019
We found that the incidence rate of phenylketonuria in Ecuador was lower than the world average described by Shoraka (6.00 per 100 000 live births) [16]
Summary
The newborn screening (NBS) is a preventive health program for early identification of disorders that can hinder their normal development or cause premature death [1]. The aim of the NBS program is early detection of congenital disorders in newborns and start a treatment to prevent intellectual and physical disabilities and life-threatening complications [2]. The NBS has been in place for many years in each country; the number of diseases tested varies in every country and its health program. There is no international standard of the disorders that be tested [3]. In Latin America, countries such as Cuba, Costa Rica, Uruguay, and Chile have a functional screening program for more than 20 years. Like Ecuador, the screening program has been working for a few years [4]
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