Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

Detalhes bibliográficos
Autor(a) principal: Dorfman,Luiza Emy
Data de Publicação: 2015
Outros Autores: Leite,Júlio César L., Giugliani,Roberto, Riegel,Mariluce
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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spelling 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
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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
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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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