SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba
| Autor: | Amarilys Frómeta, René Robaina, Niurka M. Carlos, Yenitse Perea, Pedro Almenares, José L. Fernández-Yero, Mary Triny Segura, Yileidis Tejeda, Ernesto Carlos González Reyes, Pedro L. Pérez, Ana Luisa Arteaga, Elisa M. Castells, Lesley del Río |
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| Rok vydání: | 2016 |
| Předmět: |
medicine.medical_specialty
Newborn screening newborn screening business.industry Endocrinology Diabetes and Metabolism SUMA 03 medical and health sciences 0302 clinical medicine UMTEST 030225 pediatrics technology Pediatrics Perinatology and Child Health Immunology UMELISA Medicine Medical physics 030212 general & internal medicine Instrumentation (computer programming) business Genetics (clinical) |
| Zdroj: | Journal of Inborn Errors of Metabolism and Screening v.4 2016 Journal of Inborn Errors of Metabolism and Screening Instituto Genética para Todos (IGPT) instacron:IGPT Journal of Inborn Errors of Metabolism and Screening, Volume: 4, Article number: e160014, Published: 30 MAY 2019 |
| ISSN: | 2326-4594 2326-4098 |
| DOI: | 10.1177/2326409816661356 |
| Popis: | The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs) for metabolic and endocrine disorders in Cuba. This article summarizes the main results of the implementation during the 30 years of SUMA technology in NSP for 5 inherited metabolic diseases, using ultramicroassays developed at the Department of Newborn Screening at the Immunoassay Center. Since 1986, SUMA technology has been used in the Cuban NSP for congenital hypothyroidism, initially studying thyroid hormone in cord serum samples. In 2000, a decentralized program for the detection of hyperphenylalaninemias using heel dried blood samples was initiated. These successful experiences permitted including protocols for screening congenital adrenal hyperplasia, galactosemia, and biotinidase deficiency in 2005. A program for the newborn screening of CH using the thyroid-stimulating hormone Neonatal ultramicro-ELISA was fully implemented in 2010. Nowadays, the NSP is supported by a network of 175 SUMA laboratories. After 30 years, more than 3.8 million Cuban newborns have been screened, and 1002 affected children have been detected. Moreover, SUMA technology has been presented in Latin America for over 2 decades and has contributed to screen around 17 million newborns. These results prove that developing countries can develop appropriate diagnostic technologies for making health care accessible to all. |
| Databáze: | OpenAIRE |
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