产前荧光原位杂交技术专家共识

Expert consensus on prenatal fluorescence in situ hybridization

无创产前检测虽已广泛普及,但存在一定的局限性,而作为产前诊断"金标准"的染色体G显带核型分析耗时且费力。荧光原位杂交作为一种借助非放射性荧光信号对样本进行检测的技术,无需细胞培养,分析周期短,能够快速诊断13、18、21、X、Y等染色体的非整倍性异常,有助于解决以核型分析为主的产前诊断服务能力不足、诊断周期长等问题。为规范国内实验室产前荧光原位杂交各技术环节,加强实验室质量管理,卫健委临床检验中心产前筛查与诊断实验室室间质评专家委员会和新生儿遗传代谢病筛查实验室室间质评委员会特组织专家制订了本共识。

Although non-invasive prenatal testing has been widely used,it has certain limitations.As the gold standard of prenatal diagnosis,G-banding karyotype analysis is time-consuming and laborious.Fluorescence in situ hybridization(FISH),as a method for detecting samples with non-radioactive signals,does not require cell culture and has a short turnover time,and can diagnose aneuploidies of chromosomes 13,18,21,X,Y with efficiency,which can solve the problems such as insufficient testing ability and long diagnosis period for karyotype analysis.To standardize the procedures of prenatal FISH assay and enhance laboratory quality management,the Expert Committee of the Prenatal Screening and Diagnosis Laboratory of the Clinical Test Center of the National Health Commission and the Inter-laboratory Quality Assessment Committee of the Neonatal Genetic and Metabolic Disease Screening Laboratory have formulated this consensus.