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Newborn screening in Colombia: The experience of a private program in Bogotá
Jaime E Bernal1, Martha Lucía Tamayo2, Ignacio Briceño3
1Facultad de Medicina, Universidad del Sinú, sede Cartagena, Colombia; Pregen Colombia, Bogotá, D.C., Colombia.
Insights
Newborn screening in Colombia identified abnormal hemoglobin variants in 1 in 164 infants and hemoglobin S in 1 in 194. Glucose-6-phosphate dehydrogenase deficiency and congenital hypothyroidism were also common, suggesting targeted screening for certain populations.
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Care
Context:
- The PREGEN program, established in 1988 in Bogotá, provides neonatal screening in Colombia's private healthcare sector.
- There is a scarcity of data on neonatal disorder frequencies in Colombia.
- This study analyzes recent PREGEN data to inform national screening program development.
Purpose:
- To report the results of the PREGEN newborn screening program from 2006 to 2019.
- To estimate the frequency of specific neonatal disorders in Colombia.
- To guide the inclusion of disorders in national neonatal screening programs.
Summary:
- Analysis of PREGEN databases (2006-2019) revealed abnormal hemoglobin variants in 1 in 164 newborns and hemoglobin S variants in 1 in 194.
- Glucose-6-phosphate dehydrogenase deficiency and congenital hypothyroidism were identified as other prevalent disorders.
- Abnormal hemoglobin is the most frequent monogenic disorder globally, and G6PD deficiency is a common enzymopathy.
Impact:
- Findings highlight the high prevalence of hemoglobinopathies and G6PD deficiency in the screened population.
- The study suggests that screening for hemoglobin disorders and G6PD deficiency may be particularly relevant in Colombian regions with African ancestry.
- Results can inform policy decisions for optimizing neonatal screening programs in Colombia and similar regions.
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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