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首页> 外文期刊>Clinical and experimental obstetrics and gynecology >Application of fluorescence in situ hybridization (FISH) as a tool to aid cytogenetics in 1,409 fetal samples
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Application of fluorescence in situ hybridization (FISH) as a tool to aid cytogenetics in 1,409 fetal samples

机译：荧光原位杂交（FISH）作为辅助工具在1409个胎儿样品中进行细胞遗传学研究的应用

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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.
机译：目的：为了评估在羊水，绒毛膜绒毛和胎儿流失样本的数值染色体非整倍性研究中经典的细胞遗传学技术-荧光原位杂交（FISH）的技术应用。材料和方法：作者在一年中对1,409例患者（678羊膜穿刺术，512绒毛膜绒毛样本和219例自然流产）进行了细胞遗传学分析。 FISH分子研究辅助了传统的细胞遗传学研究90例。根据每位患者的诊断假设或未获得细胞生长时指示这些病例。作者用变色的幻灯片对FISH进行了标准化。结果：使用13、18、21 X和Y着丝粒探针，他们的羊水中FISH阳性率为85％，绒毛膜绒毛中为70％，流产材料中为90％。结果显示，羊水中FISH改变了12％（100％三体性），绒毛膜绒毛中10％（50％三体性和50％X-单体性），流产材料中22％（50％三体性，25％X-单体性），和25％三倍体）。 FISH和细胞遗传学分析证实了结果。结论：这项技术彻底改变了细胞遗传学的临床和研究应用。在这篇特别的论文中，FISH是一种有价值的可靠技术，可以快速识别相间细胞，中期扩散和石蜡包埋样品中非整倍性的快速检测。希望将来，随着检测成本及其基因组学优势的降低，阵列CGH和FISH的经济可行性可以作为常规方法并结合到产前诊断方法中。

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