Rare diseases in Uruguay : focus on infants with abnormal newborn screening
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/275462 |
Resumo: | Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newborns with abnormal neonatal screening tests diagnosed by blood drop and otoacoustic emissions in Uruguay. Results: Cases with abnormal NBS tests (399 newborns; 0.17%) were compared to the newborns with normal tests in the same period (239,240). Prevalence rates (per 10,000 livebirths) were 10.00 for CHL; 3.70 for CH; 1.20 for CF; 0.59 for CAH; 0.54 for PKU; 0.13 for MCADD. The Department of Artigas had the highest rate of abnormal tests. Lower maternal education, less prenatal care, increased prematurity rate and neonatal depression were more frequent in in mothers whose children had CHL. Conclusions: This is the first study evaluating the characteristics of newborns with abnormal screening in Uruguay. Because these results may impact the planning of health services, data transmission between clinical care and public health systems is needed to improve both follow-up and management. |
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Prieto, Mariela LarrandaburuVianna, Fernanda Sales LuizGriot, KarinaQueijo, CeciliaMonzón, GabrielaUgarte, CeciliaNacul, LuisFaccini, Lavinia SchulerSanseverino, Maria Teresa Vieira2024-06-04T06:29:30Z20192326-4594http://hdl.handle.net/10183/275462001155917Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newborns with abnormal neonatal screening tests diagnosed by blood drop and otoacoustic emissions in Uruguay. Results: Cases with abnormal NBS tests (399 newborns; 0.17%) were compared to the newborns with normal tests in the same period (239,240). Prevalence rates (per 10,000 livebirths) were 10.00 for CHL; 3.70 for CH; 1.20 for CF; 0.59 for CAH; 0.54 for PKU; 0.13 for MCADD. The Department of Artigas had the highest rate of abnormal tests. Lower maternal education, less prenatal care, increased prematurity rate and neonatal depression were more frequent in in mothers whose children had CHL. Conclusions: This is the first study evaluating the characteristics of newborns with abnormal screening in Uruguay. Because these results may impact the planning of health services, data transmission between clinical care and public health systems is needed to improve both follow-up and management.application/pdfengJournal of inborn errors of metabolism and screening. Porto Alegre, RS. Vol. 7 (2019), e20190002, 9 p.Políticas de saúdeSaúde públicaVigilância epidemiológicaAnomalias congênitasMandatory diseasesRare diseases in Uruguay : focus on infants with abnormal newborn screeninginfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001155917.pdf.txt001155917.pdf.txtExtracted Texttext/plain36391http://www.lume.ufrgs.br/bitstream/10183/275462/2/001155917.pdf.txtafdcb83b12294efcfa1595077a4a2361MD52ORIGINAL001155917.pdfTexto completo (inglês)application/pdf914212http://www.lume.ufrgs.br/bitstream/10183/275462/1/001155917.pdf2835e6602297f047e9062d9b176e8d2dMD5110183/2754622024-06-05 06:50:05.516817oai:www.lume.ufrgs.br:10183/275462Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2024-06-05T09:50:05Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Rare diseases in Uruguay : focus on infants with abnormal newborn screening |
title |
Rare diseases in Uruguay : focus on infants with abnormal newborn screening |
spellingShingle |
Rare diseases in Uruguay : focus on infants with abnormal newborn screening Prieto, Mariela Larrandaburu Políticas de saúde Saúde pública Vigilância epidemiológica Anomalias congênitas Mandatory diseases |
title_short |
Rare diseases in Uruguay : focus on infants with abnormal newborn screening |
title_full |
Rare diseases in Uruguay : focus on infants with abnormal newborn screening |
title_fullStr |
Rare diseases in Uruguay : focus on infants with abnormal newborn screening |
title_full_unstemmed |
Rare diseases in Uruguay : focus on infants with abnormal newborn screening |
title_sort |
Rare diseases in Uruguay : focus on infants with abnormal newborn screening |
author |
Prieto, Mariela Larrandaburu |
author_facet |
Prieto, Mariela Larrandaburu Vianna, Fernanda Sales Luiz Griot, Karina Queijo, Cecilia Monzón, Gabriela Ugarte, Cecilia Nacul, Luis Faccini, Lavinia Schuler Sanseverino, Maria Teresa Vieira |
author_role |
author |
author2 |
Vianna, Fernanda Sales Luiz Griot, Karina Queijo, Cecilia Monzón, Gabriela Ugarte, Cecilia Nacul, Luis Faccini, Lavinia Schuler Sanseverino, Maria Teresa Vieira |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Prieto, Mariela Larrandaburu Vianna, Fernanda Sales Luiz Griot, Karina Queijo, Cecilia Monzón, Gabriela Ugarte, Cecilia Nacul, Luis Faccini, Lavinia Schuler Sanseverino, Maria Teresa Vieira |
dc.subject.por.fl_str_mv |
Políticas de saúde Saúde pública Vigilância epidemiológica Anomalias congênitas |
topic |
Políticas de saúde Saúde pública Vigilância epidemiológica Anomalias congênitas Mandatory diseases |
dc.subject.eng.fl_str_mv |
Mandatory diseases |
description |
Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newborns with abnormal neonatal screening tests diagnosed by blood drop and otoacoustic emissions in Uruguay. Results: Cases with abnormal NBS tests (399 newborns; 0.17%) were compared to the newborns with normal tests in the same period (239,240). Prevalence rates (per 10,000 livebirths) were 10.00 for CHL; 3.70 for CH; 1.20 for CF; 0.59 for CAH; 0.54 for PKU; 0.13 for MCADD. The Department of Artigas had the highest rate of abnormal tests. Lower maternal education, less prenatal care, increased prematurity rate and neonatal depression were more frequent in in mothers whose children had CHL. Conclusions: This is the first study evaluating the characteristics of newborns with abnormal screening in Uruguay. Because these results may impact the planning of health services, data transmission between clinical care and public health systems is needed to improve both follow-up and management. |
publishDate |
2019 |
dc.date.issued.fl_str_mv |
2019 |
dc.date.accessioned.fl_str_mv |
2024-06-04T06:29:30Z |
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info:eu-repo/semantics/article info:eu-repo/semantics/other |
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info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
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http://hdl.handle.net/10183/275462 |
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2326-4594 |
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001155917 |
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http://hdl.handle.net/10183/275462 |
dc.language.iso.fl_str_mv |
eng |
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eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Journal of inborn errors of metabolism and screening. Porto Alegre, RS. Vol. 7 (2019), e20190002, 9 p. |
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info:eu-repo/semantics/openAccess |
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openAccess |
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