Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Jornal de Pediatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000100059 |
Resumo: | OBJECTIVE: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. METHODS: A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. RESULTS: Out of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well-defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. CONCLUSIONS: Array-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first-line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs. |
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Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalancesBirth defectsCongenital anomaliesNewborn selective screeningChromosomal abnormalitiesMolecular cytogeneticsArray-CGH OBJECTIVE: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. METHODS: A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. RESULTS: Out of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well-defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. CONCLUSIONS: Array-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first-line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs. Sociedade Brasileira de Pediatria2015-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000100059Jornal de Pediatria v.91 n.1 2015reponame:Jornal de Pediatria (Online)instname:Sociedade Brasileira de Pediatria (SBP)instacron:SBPE10.1016/j.jped.2014.05.007info:eu-repo/semantics/openAccessDorfman,Luiza EmyLeite,Júlio César L.Giugliani,RobertoRiegel,Mariluceeng2015-08-04T00:00:00Zoai:scielo:S0021-75572015000100059Revistahttp://www.jped.com.br/https://old.scielo.br/oai/scielo-oai.php||jped@jped.com.br1678-47820021-7557opendoar:2015-08-04T00:00Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)false |
dc.title.none.fl_str_mv |
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances |
title |
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances |
spellingShingle |
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances Dorfman,Luiza Emy Birth defects Congenital anomalies Newborn selective screening Chromosomal abnormalities Molecular cytogenetics Array-CGH |
title_short |
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances |
title_full |
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances |
title_fullStr |
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances |
title_full_unstemmed |
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances |
title_sort |
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances |
author |
Dorfman,Luiza Emy |
author_facet |
Dorfman,Luiza Emy Leite,Júlio César L. Giugliani,Roberto Riegel,Mariluce |
author_role |
author |
author2 |
Leite,Júlio César L. Giugliani,Roberto Riegel,Mariluce |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Dorfman,Luiza Emy Leite,Júlio César L. Giugliani,Roberto Riegel,Mariluce |
dc.subject.por.fl_str_mv |
Birth defects Congenital anomalies Newborn selective screening Chromosomal abnormalities Molecular cytogenetics Array-CGH |
topic |
Birth defects Congenital anomalies Newborn selective screening Chromosomal abnormalities Molecular cytogenetics Array-CGH |
description |
OBJECTIVE: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. METHODS: A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. RESULTS: Out of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well-defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. CONCLUSIONS: Array-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first-line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-02-01 |
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=S0021-75572015000100059 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000100059 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1016/j.jped.2014.05.007 |
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 Pediatria |
publisher.none.fl_str_mv |
Sociedade Brasileira de Pediatria |
dc.source.none.fl_str_mv |
Jornal de Pediatria v.91 n.1 2015 reponame:Jornal de Pediatria (Online) instname:Sociedade Brasileira de Pediatria (SBP) instacron:SBPE |
instname_str |
Sociedade Brasileira de Pediatria (SBP) |
instacron_str |
SBPE |
institution |
SBPE |
reponame_str |
Jornal de Pediatria (Online) |
collection |
Jornal de Pediatria (Online) |
repository.name.fl_str_mv |
Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP) |
repository.mail.fl_str_mv |
||jped@jped.com.br |
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1752122320055435264 |