Array-CGH testing in spontaneous abortions with normal karyotypes
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , |
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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Genetics and Molecular Biology |
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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 |
format |
article |
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 |
_version_ |
1752122381146521600 |