IMR Press / CEOG / Volume 43 / Issue 5 / DOI: 10.12891/ceog3137.2016

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Original Research
Application of fluorescence in situ hybridization (FISH) as a tool to aid cytogenetics in 1,409 fetal samples
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1 Department of Pathology, Universidade Federal de São Paulo, São Paulo
2 Centro Paulista de Medicina Fetal, São Paulo
3 Fetal Medicine Division, Department of Obstetrics, Universidade Federal de São Paulo, São Paulo
4 Molecular Laboratory, Department of Gynecology, Universidade Federal de São Paulo, São Paulo (Brazil)
Clin. Exp. Obstet. Gynecol. 2016, 43(5), 685–690; https://doi.org/10.12891/ceog3137.2016
Published: 10 October 2016
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.
Keywords
Cytogenetic
Fluorescence in situ hybridization
Prenatal diagnosis
Spontaneous abortions
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