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      Tamizaje neonatal en Colombia: la experiencia de un programa privado en Bogotá Translated title: Newborn screening in Colombia: The experience of a private program in Bogotá

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          Resumen

          Introducción.

          En Colombia, el primer programa de tamizaje neonatal, PREGEN, inició labores en el sector privado de Bogotá en 1988. En este artículo se presentan los resultados obtenidos en los últimos años, que, dada la carencia de estos estudios en el país, pueden servir para evaluar la frecuencia de aparición de los trastornos congénitos evaluados y estimar cuáles de ellos deben ser objeto de tamizaje neonatal a nivel nacional.

          Objetivos.

          Reportar los resultados del programa de tamizaje PREGEN entre el 2006 y el 2019.

          Materiales y métodos.

          Para este análisis se examinaron las bases de datos y otros documentos informativos de PREGEN para el periodo 2006-2019.

          Resultados.

          Uno de cada 164 recién nacidos tamizados en el programa PREGEN en Bogotá presentó una variante anormal de la hemoglobina y uno de cada 194 es portador de hemoglobina S. Los siguientes dos trastornos más frecuentes encontrados fueron la deficiencia de la enzima glucosa-6-fosfato deshidrogenasa (frecuencia 1:2.231) y el hipotiroidismo congénito (frecuencia 1:3.915).

          Conclusiones.

          Las hemoglobinopatías mostraron ser uno de los desórdenes monogénicos más comunes, seguidos por la deficiencia de glucosa-6-fosfato deshidrogenasa y el hipotiroidismo congénito. Se calcula que cerca de 400 millones de personas en el mundo están afectadas por la deficiencia de glucosa-6-fosfato deshidrogenasa, por lo cual es la enzimopatía más común en el mundo. Como ambos desórdenes son más frecuentes en poblaciones de origen africano y confieren algún grado de resistencia a la malaria, es de prever que su tamizaje debe ser de mayor importancia en las zonas con ancestros africanos en Colombia.

          Abstract

          Introduction.

          The first neonatal screening program in Colombia - PREGEN - was set up in the medical private sector of Bogotá in 1988. We report the results from recent years that, given the scarcity of similar information in our country, may help estimate the frequency of the evaluated neonatal disorders and which ones should be included in the neonatal screening programs in our country.

          Objective.

          To describe the results of PREGEN's newborn screening program between 2006 and 2019.

          Materials and methods.

          We analyzed databases and other informative documents preserved in PREGEN from the 2006-2019 period.

          Results.

          One in every 164 newborns screened in our program had an abnormal hemoglobin variant, and one in every 194 carried some hemoglobin S variant. Glucose-6- phosphate dehydrogenase deficiency and congenital hypothyroidism are next as the more common disorders.

          Conclusions.

          Abnormal hemoglobin causes the most frequent monogenic disorder in the world. Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy affecting nearly 400 million individuals worldwide. Since both disorders are more common in people of African descent and confer some resistance to malaria, we believe that screening for both disorders may be more relevant in the areas with African ancestry in our country.

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          Most cited references14

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          Glucose-6-phosphate dehydrogenase deficiency.

          Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. G6PD deficiency is an X-linked, hereditary genetic defect due to mutations in the G6PD gene, which cause functional variants with many biochemical and clinical phenotypes. About 140 mutations have been described: most are single base changes, leading to aminoacid substitutions. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Some G6PD variants cause chronic haemolysis, leading to congenital non-spherocytic haemolytic anaemia. The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress. Screening programmes for the disorder are undertaken, depending on the prevalence of G6PD deficiency in a particular community.
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            Current status of newborn screening worldwide: 2015.

            Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers have described various newborn screening activities around the world, including a series of papers in 2007, a comprehensive review of ongoing activities since that time has not been published. In this report, we divide the world into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years. We have also provided an extensive reference listing and summary of NBS and health data in tabular form.
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              Population Screening for Hemoglobinopathies.

              Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies.
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                Author and article information

                Journal
                Biomedica
                Biomedica
                bio
                Biomédica
                Instituto Nacional de Salud
                0120-4157
                2590-7379
                31 March 2024
                March 2024
                : 44
                : 1
                : 102-107
                Affiliations
                [1 ] originalFacultad de Medicina, Universidad del Sinú, sede Cartagena, Colombia normalizedUniversidad del Sinú orgnameUniversidad del Sinú Cartagena, Colombia
                [2 ] originalPregen Colombia, Bogotá, D.C., Colombia normalizedPregen orgnamePregen Bogotá, D.C., Colombia
                [3 ] originalInstituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia normalizedPontificia Universidad Javeriana orgnamePontificia Universidad Javeriana Bogotá, D.C., Colombia
                [4 ] originalFacultad de Medicina, Universidad de la Sabana, Chía, Colombia normalizedUniversidad de la Sabana orgnameUniversidad de la Sabana Chía, Colombia
                [5 ] originalDepartamento de Ciencias Básicas, Universidad del Sinú, sede Cartagena, Colombia normalizedUniversidad del Sinú orgnameUniversidad del Sinú Cartagena, Colombia
                Author notes
                [* ] Correspondencia: Jaime E. Bernal, Facultad de Medicina, Universidad del Sinú, sede Cartagena, Colombia jebernal@ 123456gmail.com

                Conflicto de intereses: Los autores manifiestan no tener conflicto de intereses.

                Article
                10.7705/biomedica.6911
                11210979
                38648350
                7891a56c-2dd0-4f64-b7f0-1d3e9c7f113b

                Este es un artículo publicado en acceso abierto bajo una licencia Creative Commons

                History
                : 22 March 2023
                : 01 February 2024
                : 02 February 2024
                Page count
                Figures: 0, Tables: 6, Equations: 0, References: 11, Pages: 6
                Categories
                Comunicación Breve

                tamizaje neonatal,recién nacido,hemoglobinas,hipotiroidismo congénito,colombia,neonatal screening,infant, newborn,hemoglobins,congenital hypothyroidism

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