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目的评价荧光原位杂交(fluorescence in situ hybridization,FISH)诊断染色体非整倍体的临床价值。方法 FISH技术检测185例样本,临床诊断原因包括产前筛查高风险、B超检测异常、胚胎停育、外观异常等。将羊水细胞FISH检测结果与传统细胞核型分析方法进行比较。根据FISH结果结合临床诊断意见,评价FISH的临床应用价值。结果 1)FISH羊水样本检测88例,异常20例,其中79例作羊水细胞核型分析,检测结果与FISH相符率100%。2)绒毛组织样本检测72例,异常14例,人工流产与胚胎停育有正相关性。3)外周血检测20例,异常15例,检测结果与外周血核型分析结果一致。结论 FISH技术能快速准确检测染色体非整倍体异常,是传统细胞遗传学方法的有力辅助。
Objective To evaluate the clinical value of fluorescence in situ hybridization (FISH) in diagnosis of aneuploidy in chromosomes. Methods FISH technique was used to detect 185 samples. The causes of clinical diagnosis included high risk of prenatal screening, abnormalities of B ultrasound detection, suspension of embryos, abnormal appearance and so on. The amniotic fluid FISH test results were compared with conventional karyotypic analysis methods. According to FISH results combined with clinical diagnosis, evaluate the clinical value of FISH. Results 1) FISH amniotic fluid samples were detected in 88 cases, abnormal 20 cases, of which 79 cases of amniotic fluid cell karyotype analysis, the test results and FISH consistent rate of 100%. 2) Tissue samples were detected in 72 cases, abnormal 14 cases, abortion and embryo suspension have a positive correlation. 3) Peripheral blood test in 20 cases, abnormal in 15 cases, the test results and peripheral blood karyotype analysis results. Conclusion FISH can rapidly and accurately detect chromosomal aneuploidy abnormalities and is a powerful aid to traditional cytogenetics.