The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies
Q4
- Autores:
-
Olaya-C., Mercedes
Moreno Niño, Olga María
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2023
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/65321
- Acceso en línea:
- https://www.ijifm.com/abstractArticleContentBrowse/IJIFM/13/14/2/32409/abstractArticle/Article
http://hdl.handle.net/10554/65321
https://doi.org/10.5005/jp-journals-10016-1311
- Palabra clave:
- Abortion
Anatomic pathology
Birth defects
Fetal diseases
Fluorescence in situ hybridization
Neonatal–perinatal medicine
Spontaneous
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies |
| title |
The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies |
| spellingShingle |
The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies Abortion Anatomic pathology Birth defects Fetal diseases Fluorescence in situ hybridization Neonatal–perinatal medicine Spontaneous |
| title_short |
The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies |
| title_full |
The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies |
| title_fullStr |
The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies |
| title_full_unstemmed |
The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies |
| title_sort |
The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies |
| dc.creator.fl_str_mv |
Olaya-C., Mercedes Moreno Niño, Olga María |
| dc.contributor.author.none.fl_str_mv |
Olaya-C., Mercedes Moreno Niño, Olga María |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Patología |
| dc.contributor.corporatename.none.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Olaya-C., Mercedes Moreno Niño, Olga María |
| dc.subject.keyword.spa.fl_str_mv |
Abortion Anatomic pathology Birth defects Fetal diseases Fluorescence in situ hybridization Neonatal–perinatal medicine Spontaneous |
| topic |
Abortion Anatomic pathology Birth defects Fetal diseases Fluorescence in situ hybridization Neonatal–perinatal medicine Spontaneous |
| description |
Q4 |
| publishDate |
2023 |
| dc.date.accessioned.none.fl_str_mv |
2023-08-28T15:26:49Z |
| dc.date.available.none.fl_str_mv |
2023-08-28T15:26:49Z |
| dc.date.created.none.fl_str_mv |
2023-05-12 |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.identifier.spa.fl_str_mv |
https://www.ijifm.com/abstractArticleContentBrowse/IJIFM/13/14/2/32409/abstractArticle/Article |
| dc.identifier.issn.spa.fl_str_mv |
2229-3817 / 2229-3833 (Electrónico) |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/65321 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.5005/jp-journals-10016-1311 |
| dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
| dc.identifier.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
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https://www.ijifm.com/abstractArticleContentBrowse/IJIFM/13/14/2/32409/abstractArticle/Article http://hdl.handle.net/10554/65321 https://doi.org/10.5005/jp-journals-10016-1311 |
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2229-3817 / 2229-3833 (Electrónico) instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
70 |
| dc.relation.citationendpage.spa.fl_str_mv |
74 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
International Journal of Infertility and Fetal Medicine |
| dc.relation.citationvolume.spa.fl_str_mv |
14 |
| dc.relation.citationissue.spa.fl_str_mv |
2 |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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PDF |
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application/pdf |
| dc.coverage.spatial.spa.fl_str_mv |
Colombia |
| dc.coverage.temporal.spa.fl_str_mv |
2012–2013 |
| dc.coverage.city.spa.fl_str_mv |
Bogotá (Colombia) |
| institution |
Pontificia Universidad Javeriana |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Olaya-C., MercedesMoreno Niño, Olga MaríaPontificia Universidad Javeriana. Facultad de Medicina. Departamento de PatologíaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaOlaya-C., MercedesMoreno Niño, Olga MaríaColombia2012–2013Bogotá (Colombia)2023-08-28T15:26:49Z2023-08-28T15:26:49Z2023-05-12https://www.ijifm.com/abstractArticleContentBrowse/IJIFM/13/14/2/32409/abstractArticle/Article2229-3817 / 2229-3833 (Electrónico)http://hdl.handle.net/10554/65321https://doi.org/10.5005/jp-journals-10016-1311instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengThe Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in AutopsiesArtículo de revistahttp://purl.org/coar/resource_type/c_2df8fbb1Q4Introduction: 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.https://orcid.org/0000-0002-7147-425Xhttps://orcid.org/0000-0002-0826-6191Revista Internacional - IndexadaCNoAbortionAnatomic pathologyBirth defectsFetal diseasesFluorescence in situ hybridizationNeonatal–perinatal medicineSpontaneous7074International Journal of Infertility and Fetal Medicine142LICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/65321/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessORIGINALThe Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies_12-05-2023.pdfThe Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies_12-05-2023.pdfArtículoapplication/pdf14925328http://repository.javeriana.edu.co/bitstream/10554/65321/1/The%20Ongoing%20Challenge%20of%20Achieving%20Precise%20Diagnosis%20of%20Fetal%20Chromosome%20Disorders%20by%20FISH%20in%20Autopsies_12-05-2023.pdf06cc7f60205c24ea68a8ac05b18f1908MD51open accessTHUMBNAILThe Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies_12-05-2023.pdf.jpgThe Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies_12-05-2023.pdf.jpgIM Thumbnailimage/jpeg12630http://repository.javeriana.edu.co/bitstream/10554/65321/3/The%20Ongoing%20Challenge%20of%20Achieving%20Precise%20Diagnosis%20of%20Fetal%20Chromosome%20Disorders%20by%20FISH%20in%20Autopsies_12-05-2023.pdf.jpgd90c6db5d2c29f02786b6a32d735c60fMD53open access10554/65321oai:repository.javeriana.edu.co:10554/653212024-01-10 20:32:56.168Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.coTElDRU5DSUEgWSBBVVRPUklaQUNJw5NOIERFIExPUyBBVVRPUkVTIFBBUkEgUFVCTElDQVIgWSBQRVJNSVRJUiBMQSBDT05TVUxUQSBZIFVTTy4KClBhcnRlIDEuIFTDqXJtaW5vcyBkZSBsYSBsaWNlbmNpYSBnZW5lcmFsIHBhcmEgcHVibGljYWNpw7NuIGRlIG9icmFzIGVuIGVsIHJlcG9zaXRvcmlvIGluc3RpdHVjaW9uYWwKQ29tbyB0aXR1bGFyIChlcykgZGVsIGRlcmVjaG8gZGUgYXV0b3IsIGNvbmZpZXJvIChlcmltb3MpIGEgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgdW5hIGxpY2VuY2lhIG5vIGV4Y2x1c2l2YSwgbGltaXRhZGEgeSBncmF0dWl0YSBzb2JyZSBsYSBvYnJhIHF1ZSBzZSBpbnRlZ3JhcsOhIGVuIGVsIFJlcG9zaXRvcmlvIEluc3RpdHVjaW9uYWwsIHF1ZSBzZSBhanVzdGEgYSBsYXMgc2lndWllbnRlcyBjYXJhY3RlcsOtc3RpY2FzOgphKSAgICAgIEVzdGFyw6EgdmlnZW50ZSBhIHBhcnRpciBkZSBsYSBmZWNoYSBkZSBpbmNsdXNpw7NuIGVuIGVsIHJlcG9zaXRvcmlvLCBwb3IgdW4gcGxhem8gZGUgNSBhw7FvcywgcXVlIHNlcsOhbiBwcm9ycm9nYWJsZXMgaW5kZWZpbmlkYW1lbnRlIHBvciBlbCB0aWVtcG8gcXVlIGR1cmUgZWwgZGVyZWNobyBwYXRyaW1vbmlhbCBkZWwgYXV0b3IuIEVsIGF1dG9yIHBvZHLDoSBkYXIgcG9yIHRlcm1pbmFkYSBsYSBsaWNlbmNpYSBzb2xpY2l0w6FuZG9sbyBhIGxhIFVuaXZlcnNpZGFkIHBvciBlc2NyaXRvLgpiKSAgICAgIEF1dG9yaXphIGEgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgYSBwdWJsaWNhciBsYSBvYnJhIGVuIGRpZ2l0YWwsIGNvbm9jaWVuZG8gcXVlLCBkYWRvIHF1ZSBzZSBwdWJsaWNhIGVuIEludGVybmV0LCBwb3IgZXN0ZSBoZWNobyBjaXJjdWxhIGNvbiB1biBhbGNhbmNlIG11bmRpYWwuCmMpICAgICAgTG9zIGF1dG9yZXMgYWNlcHRhbiBxdWUgbGEgYXV0b3JpemFjacOzbiBzZSBoYWNlIGEgdMOtdHVsbyBncmF0dWl0bywgcG9yIGxvIHRhbnRvIHJlbnVuY2lhbiBhIHJlY2liaXIgYmVuZWZpY2lvIGFsZ3VubyBwb3IgbGEgcHVibGljYWNpw7NuLCBkaXN0cmlidWNpw7NuLCBjb211bmljYWNpw7NuIHDDumJsaWNhIHkgY3VhbHF1aWVyIG90cm8gdXNvIHF1ZSBzZSBoYWdhIGVuIGxvcyB0w6lybWlub3MgZGUgbGEgcHJlc2VudGUgbGljZW5jaWEgeSBkZSBsYSBsaWNlbmNpYSBkZSB1c28gY29uIHF1ZSBzZSBwdWJsaWNhLgpkKSAgICAgIExvcyBhdXRvcmVzIG1hbmlmaWVzdGFuIHF1ZSBzZSB0cmF0YSBkZSB1bmEgb2JyYSBvcmlnaW5hbCBzb2JyZSBsYSBxdWUgdGllbmVuIGxvcyBkZXJlY2hvcyBxdWUgYXV0b3JpemFuIHkgcXVlIHNvbiBlbGxvcyBxdWllbmVzIGFzdW1lbiB0b3RhbCByZXNwb25zYWJpbGlkYWQgcG9yIGVsIGNvbnRlbmlkbyBkZSBzdSBvYnJhIGFudGUgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgeSBhbnRlIHRlcmNlcm9zLiBFbiB0b2RvIGNhc28gbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgc2UgY29tcHJvbWV0ZSBhIGluZGljYXIgc2llbXByZSBsYSBhdXRvcsOtYSBpbmNsdXllbmRvIGVsIG5vbWJyZSBkZWwgYXV0b3IgeSBsYSBmZWNoYSBkZSBwdWJsaWNhY2nDs24uCmUpICAgICAgQXV0b3Jpem8gKGFtb3MpIGEgbGEgVW5pdmVyc2lkYWQgcGFyYSBpbmNsdWlyIGxhIG9icmEgZW4gbG9zIMOtbmRpY2VzIHkgYnVzY2Fkb3JlcyBxdWUgZXN0aW1lbiBuZWNlc2FyaW9zIHBhcmEgcHJvbW92ZXIgc3UgZGlmdXNpw7NuLgpmKSAgICAgIEFjZXB0byAoYW1vcykgcXVlIGxhIFBvbnRpZmljaWEgVW5pdmVyc2lkYWQgSmF2ZXJpYW5hIHB1ZWRhIGNvbnZlcnRpciBlbCBkb2N1bWVudG8gYSBjdWFscXVpZXIgbWVkaW8gbyBmb3JtYXRvIHBhcmEgcHJvcMOzc2l0b3MgZGUgcHJlc2VydmFjacOzbiBkaWdpdGFsLgpnKSAgICAgIEF1dG9yaXpvIChhbW9zKSBxdWUgbGEgb2JyYSBzZWEgcHVlc3RhIGEgZGlzcG9zaWNpw7NuIGRlbCBww7pibGljbyBlbiBsb3MgdMOpcm1pbm9zIGF1dG9yaXphZG9zIGVuIGxvcyBsaXRlcmFsZXMgYW50ZXJpb3JlcyBiYWpvIGxvcyBsw61taXRlcyBkZWZpbmlkb3MgcG9yIGxhIHVuaXZlcnNpZGFkIGVuIGxhcyDigJxDb25kaWNpb25lcyBkZSB1c28gZGUgZXN0cmljdG8gY3VtcGxpbWllbnRv4oCdIGRlIGxvcyByZWN1cnNvcyBwdWJsaWNhZG9zIGVuIFJlcG9zaXRvcmlvIEluc3RpdHVjaW9uYWwgUFVKICwgY3V5byB0ZXh0byBjb21wbGV0byBzZSBwdWVkZSBjb25zdWx0YXIgZW4gaHR0cDovL3JlcG9zaXRvcnkuamF2ZXJpYW5hLmVkdS5jby8KClNJIEVMIERPQ1VNRU5UTyBTRSBCQVNBIEVOIFVOIFRSQUJBSk8gUVVFIEhBIFNJRE8gUEFUUk9DSU5BRE8gTyBBUE9ZQURPIFBPUiBVTkEgQUdFTkNJQSBPIFVOQSBPUkdBTklaQUNJw5NOLCBDT04gRVhDRVBDScOTTiBERSBMQSBQT05USUZJQ0lBIFVOSVZFUlNJREFEIEpBVkVSSUFOQSwgRUwgKExPUykgQVVUT1IoRVMpIEdBUkFOVElaQShNT1MpIFFVRSBTRSBIQSBDVU1QTElETyBDT04gTE9TIERFUkVDSE9TIFkgT0JMSUdBQ0lPTkVTIFJFUVVFUklET1MgUE9SIEVMIFJFU1BFQ1RJVk8gQ09OVFJBVE8gTyBBQ1VFUkRPLgo= |