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目的探讨荧光原位杂交(fluorescenceinsituhybridization,FISH)诊断未培养羊水细胞非整倍体的临床应用价值。方法对55例孕16～32周未培养羊水细胞进行FISH快速产前诊断,应用多色FISH对另4条染色体(X、Y、13号和18号)进行检测。以经母腹穿刺取胎血常规核型分析作为FISH检测结果对照。结果被检55例羊水未培养细胞均获得诊断结果,发现两例异常胎儿。1例为标准型21三体;另1例为21三体嵌合体。FISH检测与常规核型分析结果一致。结论FISH检测未培养羊水细胞非整倍体具有快速、简便、所用样本量少的优势,结果准确可靠,可达到产前诊断要求,有较大临床应用价值。
Objective To investigate the clinical value of fluorescence in situ hybridization (FISH) in the diagnosis of aneuploid cells in cultured amniotic fluid cells. Methods Fifty-five cases of non-cultured amniotic fluid cells from 16 to 32 weeks of gestation were subjected to rapid prenatal diagnosis by FISH. The other 4 chromosomes (X, Y, 13 and 18) were detected by multi-color FISH. Fetal abdominal puncture to take routine fetal karyotype analysis as FISH test results. Results were seized 55 cases of amniotic fluid cells were diagnosed, and found two cases of abnormal fetus. One case was a standard trisomy 21 and the other case was a 21 trisomy. FISH detection and conventional karyotype analysis results. Conclusion FISH detection of aneuploid cells without amniotic fluid cells has the advantages of fast, simple, small sample size advantage, the results are accurate and reliable, can reach the prenatal diagnosis requirements, and has great clinical value.