荧光原位杂交技术用于快速产前诊断临床评价

Clinical Evaluation of Fluorescence in Situ Hybridization in Rapid Prenatal Diagnosis

荧光原位杂交技术(FISH)能有效检测出间期羊水或绒毛细胞的非整倍体异常,因此可以针对13,18,21,X和Y5种染色体进行产前诊断,在24～48h内得出结果。随着可靠的商业化的探针出现,FISH检测的效能和稳定性提高,假阳性率和假阴性率明显减少。但是,仍需警惕母源细胞污染对FISH结果的干扰。与核型分析相比,FISH技术的突出优势在于快速得到结果,从而更早缓解妊娠妇女的焦虑情绪。联合超声检查,FISH技术能在一站式快速产前诊断模式中发挥重要作用。

Fluorescence in situ hybridization （FISH） can effectively detect aneuploidy from interphase cells of anmiotic fluid and ehorionic villi and obtain results within 24 to 48 hours after sample receiving, thus FISH can be applied for rapid prenatal diagnosis aiming to human chromosomes 21,18,13,X, and Y. With the use of reliable commercial probes, FISH analysis has not only promoted the testing effectiveness and reliability, but also reduced the false positive rate and false negative rate. But maternal cell contamination should be alerted for fear to disturb the FISH results. Compared with karyotyping, the advantage of FISH is rapidness of obtaining results, so the FISH can earlier relieve anxiety of pregnant women. In combination with ultrasonic examination, FISH can play an important role in rapid prenatal diagnosis of one-stop style.