Application of fluorescence in situ hybridization (fish) as a tool to aid cytogenetics in 1,409 fetal samples

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dc.contributor.authorde Moraes-Malinverni, Andrea C. [UNIFESP]
dc.contributor.authorPatricio, F. R. S. [UNIFESP]
dc.contributor.authorOshima, Celina Tizuko Fujiyama [UNIFESP]
dc.contributor.authorMoron, Antonio F. [UNIFESP]
dc.contributor.authorda Silva, I. D. C. G. [UNIFESP]
dc.contributor.authorde Souza, M. M. [UNIFESP]
dc.date.accessioned2019-01-21T10:29:46Z
dc.date.available2019-01-21T10:29:46Z
dc.date.issued2016
dc.description.abstractAim: To evaluate the technical application of fluorescence in situ hybridization (FISH) as a support to classical cytogenetic in numerical chromosomal aneuploidies studies in samples of amniotic fluid, chorionic villus, and fetal loss. Materials and Methods: The authors performed cytogenetic analyses in 1,409 patients (678 amniocentesis, 512 chorionic villus samples, and 219 spontaneous abortions) during one year. FISH molecular study aided traditional cytogenetic in 90 cases. These cases were indicated based on the diagnostic hypothesis of each patient or when no cellular growth was obtained. The authors standardized the FISH in discoloured slides. Results: They had 85% positive FISH in amniotic fluid, 70% in chorionic villus, and 90% in abortion material using 13, 18, 21 X and Y centromeric probes. It showed 12% of altered FISH in amniotic fluid (100% trisomies), 10% in chorionic villus (50% trisomy and 50% X - monosomy), and 22% in abortion material (50% trisomy, 25% X-monosomy, and 25% triploidy). FISH and cytogenetic analysis confirmed the results. Conclusion: This technique revolutionized clinical and research applications of cytogenetics. In this particular paper, FISH was a valuable and reliable technique to promptly identify rapid detection of aneuploidies in interphase cells, metaphase spread and paraffin-embedded samples. It is hoped that, in the future, the economic viability of array CGH and FISH, with the decreasing cost of testing and their genomics advantages can be incorporated as routine and customized in the approach of prenatal diagnosis.en
dc.description.affiliationDepartment of Pathology, Universidade Federal de São Paulo, São Paulo
dc.description.affiliationCentro Paulista de Medicina Fetal, São Paulo
dc.description.affiliationFetal Medicine Division, Department of Obstetrics, Universidade Federal de São Paulo, São Paulo
dc.description.affiliationMolecular Laboratory, Department of Gynecology, Universidade Federal de São Paulo, São Paulo (Brazil)
dc.description.affiliationUnifespDepartment of Pathology, Universidade Federal de São Paulo, 396 Primeiro de Janeiro St,Apartment 63, BR-04044060 Sao Paulo, Brazil
dc.description.affiliationUnifespFetal Medicine Division, Department of Obstetrics, Universidade Federal de São Paulo, São Paulo
dc.description.affiliationUnifespMolecular Laboratory, Department of Gynecology, Universidade Federal de São Paulo, São Paulo (Brazil)
dc.description.sourceWeb of Science
dc.format.extent685-690
dc.identifierhttp://dx.doi.org/10.12891/ceog3137.2016
dc.identifier.citationClinical And Experimental Obstetrics & Gynecology. Montreal, v. 43, n. 5, p. 685-690, 2016.
dc.identifier.doi10.12891/ceog3137.2016
dc.identifier.issn0390-6663
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/49386
dc.identifier.wosWOS:000385211500011
dc.language.isoeng
dc.publisherElsevier Science Inc
dc.relation.ispartofClinical And Experimental Obstetrics & Gynecology
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectCytogeneticen
dc.subjectFluorescence In Situ Hybridizationen
dc.subjectPrenatal Diagnosisen
dc.subjectSpontaneous AbortionsRapid Prenatal-Diagnosisen
dc.subjectInsitu Hybridizationen
dc.subjectChromosomal-Abnormalitiesen
dc.subjectInterphase Fishen
dc.subjectAneuploidiesen
dc.subjectAberrationsen
dc.subjectExperienceen
dc.subjectAmniocytesen
dc.subjectAbortionsen
dc.subjectEuropeen
dc.titleApplication of fluorescence in situ hybridization (fish) as a tool to aid cytogenetics in 1,409 fetal samplesen
dc.typeinfo:eu-repo/semantics/article
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