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目的应用新一代片段分析(advanced fragment analysis,AFA)技术进行胎儿五类染色体(13,18,21,X和Y)数目异常的快速检测,探讨其在产前诊断领域的临床应用价值。方法应用AFA技术对112例提取自1 m L羊水细胞的DNA样品进行检测,并对其检测结果与G-显带核型分析结果进行比对。结果除细胞培养失败2例外,核型分析结果包括正常核型52例、非整倍性染色体异常12例、平衡易位11例和多态性遗传标记35例。AFA技术准确分析胎儿正常染色体52例和五类非整倍性染色体异常12例,48h内112例标本同时完成,并且准确分析羊水细胞培养失败样本2例。结论 AFA技术可作为检测胎儿五类非整倍性染色体异常的一种快速产前诊断方法,具有准确、简便、经济、通量高等优势,结合G-显带核型分析可明显提高实验室产前诊断能力。
Objective To detect the abnormality of chromosome number (13, 18, 21, X and Y) in fetal fetuses by a new generation of advanced fragment analysis (AFA) technique and explore its clinical value in prenatal diagnosis. Methods A total of 112 DNA samples extracted from 1 ml amniotic fluid were collected by AFA technique. The results of the detection were compared with the results of G-banding karyotype analysis. Results In addition to two cases of cell culture failure, the results of karyotype analysis included 52 cases of normal karyotype, 12 cases of aneuploidy chromosomal abnormality, 11 cases of balanced translocation and 35 cases of polymorphic genetic markers. AFA technique accurately analyzed 52 cases of fetal normal chromosomes and 5 kinds of aneuploidy chromosomal abnormalities in 12 cases, 48 cases within 48 hours of simultaneous completion of the sample, and accurate analysis of amniotic fluid cell culture failure in 2 cases. Conclusion AFA technique can be used as a rapid prenatal diagnosis method to detect five kinds of aneuploidy in fetus. It has the advantages of accuracy, convenience, economy and high throughput. Combined with G-banding karyotype analysis, AFA can obviously improve the laboratory production Pre-diagnosis ability.