唐氏综合征(Down syndrome,DS)的产前诊断是困扰围产医学的一大难题,羊膜腔穿刺术后细胞学检查虽是金标准,但具有不可避免的缺陷性[1-2]。近年来,一些研究报道荧光原位杂交技术(FISH)与实时荧光定量PCR技术可快速诊断,具有一定的临床价值,但也存在很多不足[3-6]。蛋 Prenatal diagnosis of Down syndrome (DS) is a major problem plagued by perinatal medicine. Cytological examination after amniocentesis is the gold standard, but with inevitable defects [1-2]. In recent years, some studies have reported that fluorescence in situ hybridization (FISH) and real-time fluorescence quantitative PCR can be quickly diagnosed, which has certain clinical value, but there are many deficiencies [3-6]. egg