Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

Detalhes bibliográficos
Autor(a) principal: Leistner-Segal, Sandra
Data de Publicação: 2014
Outros Autores: Brusius-Facchin, Ana Carolina, Gus, Rejane, Burin, Maira, Sanseverino, Maria Teresa, Magalhães, José Antônio, Giugliani, Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Clinical and Biomedical Research
Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/49872
Resumo: Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change.Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas dePorto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family.Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis.Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women. 
id UFRGS-20_487dd9db60f9b8346d3b32db670b8a19
oai_identifier_str oai:seer.ufrgs.br:article/49872
network_acronym_str UFRGS-20
network_name_str Clinical and Biomedical Research
repository_id_str
spelling Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type IIPrenatal diagnosismolecular analysisgenetic counsellingIntroduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change.Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas dePorto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family.Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis.Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women. HCPA/FAMED/UFRGS2014-11-18info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-reviewed ArticleAvaliado por Paresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/49872Clinical & Biomedical Research; Vol. 34 No. 4 (2014): Clinical and Biomedical ResearchClinical and Biomedical Research; v. 34 n. 4 (2014): Clinical and Biomedical Research2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSenghttps://seer.ufrgs.br/index.php/hcpa/article/view/49872/33150Leistner-Segal, SandraBrusius-Facchin, Ana CarolinaGus, RejaneBurin, MairaSanseverino, Maria TeresaMagalhães, José AntônioGiugliani, Robertoinfo:eu-repo/semantics/openAccess2024-01-19T13:31:15Zoai:seer.ufrgs.br:article/49872Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2024-01-19T13:31:15Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.none.fl_str_mv Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
title Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
spellingShingle Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
Leistner-Segal, Sandra
Prenatal diagnosis
molecular analysis
genetic counselling
title_short Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
title_full Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
title_fullStr Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
title_full_unstemmed Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
title_sort Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
author Leistner-Segal, Sandra
author_facet Leistner-Segal, Sandra
Brusius-Facchin, Ana Carolina
Gus, Rejane
Burin, Maira
Sanseverino, Maria Teresa
Magalhães, José Antônio
Giugliani, Roberto
author_role author
author2 Brusius-Facchin, Ana Carolina
Gus, Rejane
Burin, Maira
Sanseverino, Maria Teresa
Magalhães, José Antônio
Giugliani, Roberto
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Leistner-Segal, Sandra
Brusius-Facchin, Ana Carolina
Gus, Rejane
Burin, Maira
Sanseverino, Maria Teresa
Magalhães, José Antônio
Giugliani, Roberto
dc.subject.por.fl_str_mv Prenatal diagnosis
molecular analysis
genetic counselling
topic Prenatal diagnosis
molecular analysis
genetic counselling
description Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change.Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas dePorto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family.Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis.Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women. 
publishDate 2014
dc.date.none.fl_str_mv 2014-11-18
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Peer-reviewed Article
Avaliado por Pares
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/49872
url https://seer.ufrgs.br/index.php/hcpa/article/view/49872
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/49872/33150
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv HCPA/FAMED/UFRGS
publisher.none.fl_str_mv HCPA/FAMED/UFRGS
dc.source.none.fl_str_mv Clinical & Biomedical Research; Vol. 34 No. 4 (2014): Clinical and Biomedical Research
Clinical and Biomedical Research; v. 34 n. 4 (2014): Clinical and Biomedical Research
2357-9730
reponame:Clinical and Biomedical Research
instname:Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
instname_str Universidade Federal do Rio Grande do Sul (UFRGS)
instacron_str UFRGS
institution UFRGS
reponame_str Clinical and Biomedical Research
collection Clinical and Biomedical Research
repository.name.fl_str_mv Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)
repository.mail.fl_str_mv ||cbr@hcpa.edu.br
_version_ 1799767053670809600