25 Years of Newborn Screening in Uruguay
Abstract In the 1960s Guthrie conceived the idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able to treat environmental factors in time to avoid the devastating effect of the diseases. Uruguay started in 1994 w...
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| Format: | Article |
| Language: | English |
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SciELO
2021-06-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100315&tlng=en |
| _version_ | 1818949208829329408 |
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| author | Cecilia Queijo A. Lemes G. Queiruga |
| author_facet | Cecilia Queijo A. Lemes G. Queiruga |
| author_sort | Cecilia Queijo |
| collection | DOAJ |
| description | Abstract In the 1960s Guthrie conceived the idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able to treat environmental factors in time to avoid the devastating effect of the diseases. Uruguay started in 1994 with the detection of congenital hypothyroidism in umbilical cord blood. In 2007 it was extended to Phenylketonuria and Congenital Adrenal Hyperplasia, starting with dried blood spot sample. In 2008, with the incorporation of Mass Spectrometry, a pilot program was started for the detection of aminoacidopathies, beta-oxidation defects and organic acidemias disorders. In the following years, the program expanded to more diseases, reaching a total of 25 disorders that could be detected, 5 of them are investigated on a mandatory basis and others in pilot program. During the 25-year of experience, 974277 umbilical cord blood samples were analyzed and since 2007: 532684 dried blood spot samples. 613 true positive congenital disorders were identified. The coverage has been greater than 98% and the repetition rate for insufficient samples less than 1.9%. |
| first_indexed | 2024-12-20T08:59:03Z |
| format | Article |
| id | doaj.art-846089a075454605be9b692061d28b65 |
| institution | Directory Open Access Journal |
| issn | 2326-4594 |
| language | English |
| last_indexed | 2024-12-20T08:59:03Z |
| publishDate | 2021-06-01 |
| publisher | SciELO |
| record_format | Article |
| series | Journal of Inborn Errors of Metabolism and Screening |
| spelling | doaj.art-846089a075454605be9b692061d28b652022-12-21T19:45:54ZengSciELOJournal of Inborn Errors of Metabolism and Screening2326-45942021-06-01910.1590/2326-4594-jiems-2021-000825 Years of Newborn Screening in UruguayCecilia Queijohttps://orcid.org/0000-0002-1624-5948A. LemesG. QueirugaAbstract In the 1960s Guthrie conceived the idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able to treat environmental factors in time to avoid the devastating effect of the diseases. Uruguay started in 1994 with the detection of congenital hypothyroidism in umbilical cord blood. In 2007 it was extended to Phenylketonuria and Congenital Adrenal Hyperplasia, starting with dried blood spot sample. In 2008, with the incorporation of Mass Spectrometry, a pilot program was started for the detection of aminoacidopathies, beta-oxidation defects and organic acidemias disorders. In the following years, the program expanded to more diseases, reaching a total of 25 disorders that could be detected, 5 of them are investigated on a mandatory basis and others in pilot program. During the 25-year of experience, 974277 umbilical cord blood samples were analyzed and since 2007: 532684 dried blood spot samples. 613 true positive congenital disorders were identified. The coverage has been greater than 98% and the repetition rate for insufficient samples less than 1.9%.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100315&tlng=enNewborn screeningCongenital hypothyroidismCystic fibrosisCongenital adrenal hyperplasiaHaemoglobinopathiesMCADPhenylketonuria |
| spellingShingle | Cecilia Queijo A. Lemes G. Queiruga 25 Years of Newborn Screening in Uruguay Journal of Inborn Errors of Metabolism and Screening Newborn screening Congenital hypothyroidism Cystic fibrosis Congenital adrenal hyperplasia Haemoglobinopathies MCAD Phenylketonuria |
| title | 25 Years of Newborn Screening in Uruguay |
| title_full | 25 Years of Newborn Screening in Uruguay |
| title_fullStr | 25 Years of Newborn Screening in Uruguay |
| title_full_unstemmed | 25 Years of Newborn Screening in Uruguay |
| title_short | 25 Years of Newborn Screening in Uruguay |
| title_sort | 25 years of newborn screening in uruguay |
| topic | Newborn screening Congenital hypothyroidism Cystic fibrosis Congenital adrenal hyperplasia Haemoglobinopathies MCAD Phenylketonuria |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100315&tlng=en |
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