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The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies

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dc.contributor.authorOlaya-C., Mercedes
dc.contributor.authorMoreno Niño, Olga María
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Patologíaspa
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributor.javerianateacherOlaya-C., Mercedes
dc.contributor.javerianateacherMoreno Niño, Olga María
dc.coverage.cityBogotá (Colombia)spa
dc.coverage.spatialColombiaspa
dc.coverage.temporal2012–2013spa
dc.date.accessioned2023-08-28T15:26:49Z
dc.date.available2023-08-28T15:26:49Z
dc.date.created2023-05-12
dc.description.abstractenglishIntroduction: Chromosome abnormalities are an important cause of fetal and perinatal deaths. Molecular testing can be a useful tool in preconception counseling in selected families. However, such testing is neither routine nor mandatory at many healthcare centers; a number of factors can contribute to the lack of genetic and chromosome diagnoses. Materials and methods: We performed an observational analytical study on 42 paraffin-embedded samples from fetal autopsy tissue with the suspected chromosomal disorder; we tested the efficacy of the fluorescence in situ hybridization (FISH) probe to ascertain the presence of common chromosome abnormalities. Results: Use of the FISH technique in paraffin-embedded tissue has been standard practice in oncopathology; there now exists standardization of these probes in fetal and neonatal tissue. Our study analyzes various difficulties we encountered with the FISH probe when used for chromosome abnormalities diagnoses in fetal autopsies, and we conclude with pertinent recommendations for improving test outcomes. Conclusion: Simultaneous occurrence of chromosome disorders and advanced maceration is common; maceration interferes with the proper performance of the FISH test; however, we view this diagnostic tool as appropriately functional when used under specific conditions.spa
dc.description.esciNospa
dc.description.indexingRevista Internacional - Indexadaspa
dc.description.orcidhttps://orcid.org/0000-0002-7147-425Xspa
dc.description.orcidhttps://orcid.org/0000-0002-0826-6191spa
dc.description.publindexCspa
dc.description.quartilescopusQ4spa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.identifierhttps://www.ijifm.com/abstractArticleContentBrowse/IJIFM/13/14/2/32409/abstractArticle/Articlespa
dc.identifier.doihttps://doi.org/10.5005/jp-journals-10016-1311spa
dc.identifier.instnameinstname:Pontificia Universidad Javerianaspa
dc.identifier.issn2229-3817 / 2229-3833 (Electrónico)spa
dc.identifier.reponamereponame:Repositorio Institucional - Pontificia Universidad Javerianaspa
dc.identifier.repourlrepourl:https://repository.javeriana.edu.cospa
dc.identifier.urihttp://hdl.handle.net/10554/65321
dc.language.isoengspa
dc.relation.citationendpage74spa
dc.relation.citationissue2spa
dc.relation.citationstartpage70spa
dc.relation.citationvolume14spa
dc.relation.ispartofjournalInternational Journal of Infertility and Fetal Medicinespa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2spa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subject.keywordAbortionspa
dc.subject.keywordAnatomic pathologyspa
dc.subject.keywordBirth defectsspa
dc.subject.keywordFetal diseasesspa
dc.subject.keywordFluorescence in situ hybridizationspa
dc.subject.keywordNeonatal–perinatal medicinespa
dc.subject.keywordSpontaneousspa
dc.titleThe Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsiesspa
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1spa
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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