Array-CGH testing in spontaneous abortions with normal karyotypes

Detalhes bibliográficos
Autor(a) principal: Borovik,Cleide L.
Data de Publicação: 2008
Outros Autores: Perez,Ana Beatriz A., Silva,Luciana R.J. da, Krepischi-Santos,Ana Cristina V., Costa,Silvia S., Rosenberg,Carla
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300004
Resumo: In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short- and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at ~1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further ~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.
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spelling Array-CGH testing in spontaneous abortions with normal karyotypesspontaneous abortionchromosomal aberrationsarray-CGHIn about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short- and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at ~1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further ~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.Sociedade Brasileira de Genética2008-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300004Genetics and Molecular Biology v.31 n.2 2008reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572008000300004info:eu-repo/semantics/openAccessBorovik,Cleide L.Perez,Ana Beatriz A.Silva,Luciana R.J. daKrepischi-Santos,Ana Cristina V.Costa,Silvia S.Rosenberg,Carlaeng2008-06-24T00:00:00Zoai:scielo:S1415-47572008000300004Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2008-06-24T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Array-CGH testing in spontaneous abortions with normal karyotypes
title Array-CGH testing in spontaneous abortions with normal karyotypes
spellingShingle Array-CGH testing in spontaneous abortions with normal karyotypes
Borovik,Cleide L.
spontaneous abortion
chromosomal aberrations
array-CGH
title_short Array-CGH testing in spontaneous abortions with normal karyotypes
title_full Array-CGH testing in spontaneous abortions with normal karyotypes
title_fullStr Array-CGH testing in spontaneous abortions with normal karyotypes
title_full_unstemmed Array-CGH testing in spontaneous abortions with normal karyotypes
title_sort Array-CGH testing in spontaneous abortions with normal karyotypes
author Borovik,Cleide L.
author_facet Borovik,Cleide L.
Perez,Ana Beatriz A.
Silva,Luciana R.J. da
Krepischi-Santos,Ana Cristina V.
Costa,Silvia S.
Rosenberg,Carla
author_role author
author2 Perez,Ana Beatriz A.
Silva,Luciana R.J. da
Krepischi-Santos,Ana Cristina V.
Costa,Silvia S.
Rosenberg,Carla
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Borovik,Cleide L.
Perez,Ana Beatriz A.
Silva,Luciana R.J. da
Krepischi-Santos,Ana Cristina V.
Costa,Silvia S.
Rosenberg,Carla
dc.subject.por.fl_str_mv spontaneous abortion
chromosomal aberrations
array-CGH
topic spontaneous abortion
chromosomal aberrations
array-CGH
description In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short- and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at ~1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further ~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.
publishDate 2008
dc.date.none.fl_str_mv 2008-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300004
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300004
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572008000300004
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.31 n.2 2008
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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