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

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dc.contributor.author de Moraes-Malinverni, Andrea C. [UNIFESP]
dc.contributor.author Patricio, F. R. S. [UNIFESP]
dc.contributor.author Oshima, Celina Tizuko Fujiyama [UNIFESP]
dc.contributor.author Moron, Antonio F. [UNIFESP]
dc.contributor.author da Silva, I. D. C. G. [UNIFESP]
dc.contributor.author de Souza, M. M. [UNIFESP]
dc.date.accessioned 2019-01-21T10:29:46Z
dc.date.available 2019-01-21T10:29:46Z
dc.date.issued 2016
dc.identifier http://dx.doi.org/10.12891/ceog3137.2016
dc.identifier.citation Clinical And Experimental Obstetrics & Gynecology. Montreal, v. 43, n. 5, p. 685-690, 2016.
dc.identifier.issn 0390-6663
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/49386
dc.description.abstract Aim: 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.format.extent 685-690
dc.language.iso eng
dc.publisher Elsevier Science Inc
dc.relation.ispartof Clinical And Experimental Obstetrics & Gynecology
dc.rights Acesso restrito
dc.subject Cytogenetic en
dc.subject Fluorescence In Situ Hybridization en
dc.subject Prenatal Diagnosis en
dc.subject Spontaneous AbortionsRapid Prenatal-Diagnosis en
dc.subject Insitu Hybridization en
dc.subject Chromosomal-Abnormalities en
dc.subject Interphase Fish en
dc.subject Aneuploidies en
dc.subject Aberrations en
dc.subject Experience en
dc.subject Amniocytes en
dc.subject Abortions en
dc.subject Europe en
dc.title Application of fluorescence in situ hybridization (fish) as a tool to aid cytogenetics in 1,409 fetal samples en
dc.type Artigo
dc.description.affiliation Department of Pathology, Universidade Federal de São Paulo, São Paulo
dc.description.affiliation Centro Paulista de Medicina Fetal, São Paulo
dc.description.affiliation Fetal Medicine Division, Department of Obstetrics, Universidade Federal de São Paulo, São Paulo
dc.description.affiliation Molecular Laboratory, Department of Gynecology, Universidade Federal de São Paulo, São Paulo (Brazil)
dc.description.affiliationUnifesp Department of Pathology, Universidade Federal de São Paulo, 396 Primeiro de Janeiro St,Apartment 63, BR-04044060 Sao Paulo, Brazil
dc.description.affiliationUnifesp Fetal Medicine Division, Department of Obstetrics, Universidade Federal de São Paulo, São Paulo
dc.description.affiliationUnifesp Molecular Laboratory, Department of Gynecology, Universidade Federal de São Paulo, São Paulo (Brazil)
dc.identifier.doi 10.12891/ceog3137.2016
dc.description.source Web of Science
dc.identifier.wos WOS:000385211500011



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