Newborn Screening in Colombia: The Experience of a Private Program in Bogotá
Journal: Advances in Medicine and Engineering Interdisciplinary Research DOI: 10.32629/ameir.v3i2.3737
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.
Keywords
neonatal screening; infant newborn; hemoglobins; congenital hypothyroidism; Colombia
Funding
Ministry of Science, Technology, and Innovation, Project No. CTR 941 of 2019.
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[11] Alvear CC, Barboza M, Viola M, Moneriz C, Araque LM. Pilot study of hemoglobinopathies in newborns of the Rafael Calvo maternity clinic of Cartagena, Colombia. Colomb Med (Cali). 2012;43:196-9.
[2] Ulm E, Feero WG, Dineen R, Charrow J, Wicklund C. Genetics professionals' 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
[3] Rojas JA, Bernal JE, García MA, Zarante I, Ramírez N, Bernal C, et al. Transient evoked oto-acoustic emission screening in newborns in Bogotá, Colombia: A retrospective study. Int J Pediatr Otorhinolaryngol. 2014;78:1752-5. https://doi.org/10.1016/j.ijporl.2014.08.004
[4] Goonasekera HW, Paththinige CS, Dissanayake VHW. Population screening for hemoglobinopathies. Ann Rev Genomics Hum Genet. 2018;19:355-80. https://doi.org/10.1146/annurev-genom-091416-035451
[5] Joseph R, Ho LY, Gomez JM, Rajdurai VS, Sivasankaran S, Yip YY. Mass newborn screening for glucose-6-phosphate dehydrogenase deficiency in Singapore. Southeast Asian J Trop Med Public Health. 1999;30(Suppl.2):70-1.
[6] Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371:64-74. https://doi.org/10.1016/S0140-6736(08)60073-2
[7] Dirección Equidad y Políticas Poblacionales. Población afrocolombiana en el Distrito Capital. Línea de base. Fecha de consulta: 14 de agosto de 2022. Disponible en: https://www.sdp.gov.co/sites/default/files/2011_linea base_bta.pdf
[8] Levy PA. An overview of newborn screening. J Dev Behav Pediatr. 2010;31:622-31 https://doi.org/10.1097/DBP.0b013e3181eedf01
[9] Bermúdez AJ, Robayo DB, González N, Moreno L. Tamizaje neonatal y enfermedades raras. Del test de Guthrie a la espectrometría de masas. Pediatr. 2021;54:28-35. https://doi.org/10.14295/rp.v54i1.173
[10] Unigarro MF, Forero C, Cespedes C. Neuropsychological and physical development of patients diagnosed with congenital hypothyroidism at the San Ignacio University Hospital between 2001 and 2017. Biomédica. 2022;42:144-53. https://doi.org/10.7705/biomedica.6334
[11] Alvear CC, Barboza M, Viola M, Moneriz C, Araque LM. Pilot study of hemoglobinopathies in newborns of the Rafael Calvo maternity clinic of Cartagena, Colombia. Colomb Med (Cali). 2012;43:196-9.
Copyright © 2025 Jaime E. Bernal, Martha Lucía Tamayo, Ignacio Briceño, Escilda Benavides
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