产前行妊娠相关血浆蛋白A筛查联合FISH诊断Down综合征

Combination of Prenatal Screening of Pregnancy Associated Plasma Protein A with the Inter-fluorescence in Situ Hybridization for Prenatal Diagnosis of Down Syndrome

目的 :应用单项妊娠相关血浆蛋白A(PAPP A)筛查与羊水间期荧光原位杂交 (FISH)产前诊断相结合预防妊娠Down综合征胎儿。方法 :采用酶联免疫方法 (ELISA)对孕周分别为 6～ 2 7周的 1839例孕妇进行母血PAPP A单项筛查 ,以低于同一孕周的中位数时视为可能妊娠Down综合征胎儿的高风险孕妇。取高风险孕妇羊水细胞直接进行间期FISH产前诊断并同时用部分羊水细胞遗传学检查作对照。结果 :检出 1例孕 7周孕妇其PAPP A值为 0 0 5 1U/L ,低于同一孕周中位数 2 0多倍。羊水细胞间期FISH结果显示 ,含 5个杂交信号的核占所有杂交核的 38 5 % ,与细胞遗传学分析的 2 1三体核型完全一致。结论 :单项PAPP A筛查与羊水间期细胞FISH相结合是早期防治妊娠Down综合征有效可行的方法。

Objective:To investigate the prenatal diagnosis of Down Sydrome by detecting maternal serwn of pregnancy associated plasma protein A(PAPP-A) and the amniocytes for inter-fluorescence in situ hybridization.Methods:PAPP-A was screened in 1839 pregnant women(6 to 27 weeks)by enzyme link immunosorbent assay(ELISA)and inter-FISH was used to prenatal diagnosis in high risk pregnant women.Results:One women whose median value of PAPP-A was 0.05lU/L and decreased 20 times than other pregnant women in the same pregnant weeks.Inter-FISH showed that the nucleus with five hybride signals was 38.5%. This result was full agreement with trisomy 21 determined by cytogenetics.Conclusions:Combination of maternal serun PAPP-A with the amniocytes of inter-FISH was effective for prenatal diagnosis of Down syndrome.