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目的:探讨荧光原位杂交检测技术(fluorescence in situ hybridization,FISH)对无创DNA产前检测(noninvasive prenatal testing,NIPT)阳性病例的诊断价值。方法:对22例NIPT阳性病例的未培养羊水利用FISH技术进行胎儿13、18、21、X和Y染色体数目的检测,同时将所有病例的羊水或脐血细胞培养行常规染色体G显带染色体核型分析。应用Kappa检验比较FISH和染色体核型分析检测结果的一致性并进行分析。结果:22例样本FISH检测结果中,18例检测出胎儿染色体非整倍体异常,包括13-三体2例、21-三体11例、18-三体1例、XXY/XY嵌合型1例、XXY型1例、XXXXY型1例、XYY型1例,余下4例未发现染色体数目异常。FISH检测结果与染色体核型分析结果一致性极强(κ=1)。结论:NIPT存在假阳性结果,阳性病例必须进行进一步产前诊断,FISH技术具有快速,简便,准确的技术特点,是快速确诊的有效手段。
Objective: To investigate the diagnostic value of fluorescence in situ hybridization (FISH) in noninvasive prenatal testing (NIPT) positive cases. Methods: Fetal 13, 18, 21, X and Y chromosome numbers were detected in 22 cases of non-cultured amniotic fluid with positive cases of NIPT. At the same time, all cases of amniotic fluid or umbilical cord blood cells were cultured with conventional G chromosome with chromosome karyotype analysis. The Kappa test was used to compare and analyze the consistency of FISH and karyotype analysis. Results: Of the 22 cases of FISH test results, 18 cases of fetal chromosomal aneuploidy were detected including 2 cases of 13-trisomy, 11 cases of 21-trisomy, 1 case of 18-trisomy, 1 case of XXY / XY chimera 1 case, XXY type in 1 case, XXXXY type in 1 case, XYY type in 1 case, the remaining 4 cases did not find the number of chromosomal abnormalities. FISH test results and chromosome karyotype analysis results strongly (κ = 1). Conclusion: There is a false positive result in NIPT. Prenatal diagnosis must be carried out in positive cases. FISH technique is rapid, simple and accurate, and it is an effective method for rapid diagnosis.