Neonatal screening for spinal muscular atrophy : a pilot study in Brazil

Detalhes bibliográficos
Autor(a) principal: Netto, Alice Brinckmann Oliveira
Data de Publicação: 2023
Outros Autores: Facchin, Ana Carolina Brusius, Lemos, Júlia Feltraco, Brasil, Carolina Serpa, Trapp, Franciele Barbosa, Saute, Jonas Alex Morales, Donis, Karina Carvalho, Becker, Michele Michelin, Wiest, Paloma, Coutinho, Vivian de Lima Spode, Castro, Simone Martins de, Ferreira, Juliana de Jesus Guimarães, Silveira, Cynthia, Bittar, Maria Fernanda Ribeiro, Wang, Cristina, Lana, Janaina M., França Júnior, Marcondes Cavalcante, Giugliani, Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/268490
Resumo: Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.
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spelling Netto, Alice Brinckmann OliveiraFacchin, Ana Carolina BrusiusLemos, Júlia FeltracoBrasil, Carolina SerpaTrapp, Franciele BarbosaSaute, Jonas Alex MoralesDonis, Karina CarvalhoBecker, Michele MichelinWiest, PalomaCoutinho, Vivian de Lima SpodeCastro, Simone Martins deFerreira, Juliana de Jesus GuimarãesSilveira, CynthiaBittar, Maria Fernanda RibeiroWang, CristinaLana, Janaina M.França Júnior, Marcondes CavalcanteGiugliani, Roberto2023-12-16T03:26:15Z20231415-4757http://hdl.handle.net/10183/268490001193277Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.application/pdfengGenetics and molecular biology. Ribeirão Preto (SP). Vol. 46, n. 3, Supl. 1 (2023), e20230126, 8 p.Atrofia muscular espinalTriagem neonatalReação em cadeia da polimerase em tempo realSpinal muscular strophyNeonatal screeningReal-time PCRMLPABrazilNeonatal screening for spinal muscular atrophy : a pilot study in Brazilinfo: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:UFRGSTEXT001193277.pdf.txt001193277.pdf.txtExtracted Texttext/plain37707http://www.lume.ufrgs.br/bitstream/10183/268490/2/001193277.pdf.txta90b33be53112f99ddcda2ad764fd10cMD52ORIGINAL001193277.pdfTexto completo (inglês)application/pdf1428148http://www.lume.ufrgs.br/bitstream/10183/268490/1/001193277.pdfd5f415c48c9dd6aadc05216618499dfbMD5110183/2684902024-03-09 05:03:13.053983oai:www.lume.ufrgs.br:10183/268490Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2024-03-09T08:03:13Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
title Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
spellingShingle Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
Netto, Alice Brinckmann Oliveira
Atrofia muscular espinal
Triagem neonatal
Reação em cadeia da polimerase em tempo real
Spinal muscular strophy
Neonatal screening
Real-time PCR
MLPA
Brazil
title_short Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
title_full Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
title_fullStr Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
title_full_unstemmed Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
title_sort Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
author Netto, Alice Brinckmann Oliveira
author_facet Netto, Alice Brinckmann Oliveira
Facchin, Ana Carolina Brusius
Lemos, Júlia Feltraco
Brasil, Carolina Serpa
Trapp, Franciele Barbosa
Saute, Jonas Alex Morales
Donis, Karina Carvalho
Becker, Michele Michelin
Wiest, Paloma
Coutinho, Vivian de Lima Spode
Castro, Simone Martins de
Ferreira, Juliana de Jesus Guimarães
Silveira, Cynthia
Bittar, Maria Fernanda Ribeiro
Wang, Cristina
Lana, Janaina M.
França Júnior, Marcondes Cavalcante
Giugliani, Roberto
author_role author
author2 Facchin, Ana Carolina Brusius
Lemos, Júlia Feltraco
Brasil, Carolina Serpa
Trapp, Franciele Barbosa
Saute, Jonas Alex Morales
Donis, Karina Carvalho
Becker, Michele Michelin
Wiest, Paloma
Coutinho, Vivian de Lima Spode
Castro, Simone Martins de
Ferreira, Juliana de Jesus Guimarães
Silveira, Cynthia
Bittar, Maria Fernanda Ribeiro
Wang, Cristina
Lana, Janaina M.
França Júnior, Marcondes Cavalcante
Giugliani, Roberto
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Netto, Alice Brinckmann Oliveira
Facchin, Ana Carolina Brusius
Lemos, Júlia Feltraco
Brasil, Carolina Serpa
Trapp, Franciele Barbosa
Saute, Jonas Alex Morales
Donis, Karina Carvalho
Becker, Michele Michelin
Wiest, Paloma
Coutinho, Vivian de Lima Spode
Castro, Simone Martins de
Ferreira, Juliana de Jesus Guimarães
Silveira, Cynthia
Bittar, Maria Fernanda Ribeiro
Wang, Cristina
Lana, Janaina M.
França Júnior, Marcondes Cavalcante
Giugliani, Roberto
dc.subject.por.fl_str_mv Atrofia muscular espinal
Triagem neonatal
Reação em cadeia da polimerase em tempo real
topic Atrofia muscular espinal
Triagem neonatal
Reação em cadeia da polimerase em tempo real
Spinal muscular strophy
Neonatal screening
Real-time PCR
MLPA
Brazil
dc.subject.eng.fl_str_mv Spinal muscular strophy
Neonatal screening
Real-time PCR
MLPA
Brazil
description Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.
publishDate 2023
dc.date.accessioned.fl_str_mv 2023-12-16T03:26:15Z
dc.date.issued.fl_str_mv 2023
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/268490
dc.identifier.issn.pt_BR.fl_str_mv 1415-4757
dc.identifier.nrb.pt_BR.fl_str_mv 001193277
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Genetics and molecular biology. Ribeirão Preto (SP). Vol. 46, n. 3, Supl. 1 (2023), e20230126, 8 p.
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