{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:48:16Z","timestamp":1789728496579,"version":"4.0.1"},"reference-count":11,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"1","license":[{"start":{"date-parts":[[2024,3,31]],"date-time":"2024-03-31T00:00:00Z","timestamp":1711843200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,31]],"date-time":"2024-03-31T00:00:00Z","timestamp":1711843200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>Introducci\u00f3n. En Colombia, el primer programa de tamizaje neonatal, PREGEN, inici\u00f3 labores en el sector privado de Bogot\u00e1 en 1988. En este art\u00edculo se presentan los resultados obtenidos en los \u00faltimos a\u00f1os, que, dada la carencia de estos estudios en el pa\u00eds, pueden servir para evaluar la frecuencia de aparici\u00f3n de los trastornos cong\u00e9nitos evaluados y estimar cu\u00e1les 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 m\u00e9todos. Para este an\u00e1lisis se examinaron las bases de datos y otros documentos informativos de PREGEN para el periodo 2006-2019.Resultados. Uno de cada 164 reci\u00e9n nacidos tamizados en el programa PREGEN en Bogot\u00e1 present\u00f3 una variante anormal de la hemoglobina y uno de cada 194 es portador de hemoglobina S. Los siguientes dos trastornos m\u00e1s frecuentes encontrados fueron la deficiencia de la enzima glucosa-6-fosfato deshidrogenasa (frecuencia 1:2.231) y el hipotiroidismo cong\u00e9nito (frecuencia 1:3.915).Conclusiones. Las hemoglobinopat\u00edas mostraron ser uno de los des\u00f3rdenes monog\u00e9nicos m\u00e1s comunes, seguidos por la deficiencia de glucosa-6-fosfato deshidrogenasa y el hipotiroidismo cong\u00e9nito. Se calcula que cerca de 400 millones de personas en el mundo est\u00e1n afectadas por la deficiencia de glucosa-6-fosfato deshidrogenasa, por lo cual es la enzimopat\u00eda m\u00e1s com\u00fan en el mundo. Como ambos des\u00f3rdenes son m\u00e1s frecuentes en poblaciones de origen africano y confieren alg\u00fan 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.<\/jats:p>","DOI":"10.7705\/biomedica.6911","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T15:23:00Z","timestamp":1713280980000},"page":"102-107","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":6,"title":["Tamizaje neonatal en Colombia: la experiencia de un programa privado en Bogot\u00e1","Newborn screening in Colombia: The experience of a private program in Bogot\u00e1"],"prefix":"10.7705","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9733-5143","authenticated-orcid":false,"given":"Jaime E.","family":"Bernal","sequence":"first","affiliation":[{"name":"Facultad de Medicina, Universidad del Sin\u00fa, sede Cartagena, Colombia;\u00a0Pregen Colombia, Bogot\u00e1, D.C., Colombia"},{"name":"Facultad de Medicina, Universidad del Sin\u00fa, sede Cartagena, Colombia;\u00a0Pregen Colombia, Bogot\u00e1, D.C., Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8297-3970","authenticated-orcid":false,"given":"Martha Luc\u00eda","family":"Tamayo","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Humana, Pontificia Universidad Javeriana, Bogot\u00e1, D.C., Colombia"},{"name":"Instituto de Gen\u00e9tica Humana, Pontificia Universidad Javeriana, Bogot\u00e1, D.C., Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7300-6401","authenticated-orcid":false,"given":"Ignacio","family":"Brice\u00f1o","sequence":"additional","affiliation":[{"name":"Facultad de Medicina, Universidad de la Sabana, Ch\u00eda, Colombia"},{"name":"Facultad de Medicina, Universidad de la Sabana, Ch\u00eda, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3319-0130","authenticated-orcid":false,"given":"Escilda","family":"Benavides","sequence":"additional","affiliation":[{"name":"Departamento de Ciencias B\u00e1sicas, Universidad del Sin\u00fa, sede Cartagena, Colombia"},{"name":"Departamento de Ciencias B\u00e1sicas, Universidad del Sin\u00fa, sede Cartagena, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4444","published-online":{"date-parts":[[2024,3,31]]},"reference":[{"key":"132240","doi-asserted-by":"crossref","unstructured":"Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, et al. Current status of newborn screening worldwide. Semin Perinatol. 2015;39:171-87. https:\/\/doi.org\/10.1053\/j.semperi.2015.03.002","DOI":"10.1053\/j.semperi.2015.03.002"},{"key":"132241","doi-asserted-by":"crossref","unstructured":"Ulm E, Feero WG, Dineen R, Charrow J, Wicklund C. Genetics professionals\u2019 opinions of whole-genome sequencing in the newborn period. J Genet Couns. 2015;24:452-63. https:\/\/doi.org\/10.1007\/s10897-014-9779-3","DOI":"10.1007\/s10897-014-9779-3"},{"key":"132242","doi-asserted-by":"crossref","unstructured":"Rojas JA, Bernal JE, Garc\u00eda MA, Zarante I, Ram\u00edrez N, Bernal C, et al. Transient evoked oto-acoustic emission screening in newborns in Bogot\u00e1, Colombia: A retrospective study. Int J Pediatr Otorhinolaryngol. 2014;78:1752-5. https:\/\/doi.org\/10.1016\/j.ijporl.2014.0","DOI":"10.1016\/j.ijporl.2014.08.004"},{"key":"132243","doi-asserted-by":"crossref","unstructured":"Goonasekera HW, Paththinige CS, Dissanayake VHW. 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