孕早期妇女唐氏综合征血清二联筛查结果分析

Analysis of maternal serum screening for Down's syndrome of 5566 pregnant women during first trimester

目的 探讨孕早期（孕11-13^＋6周）母体血清二联筛查对检出胎儿唐氏综合征的实用价值。方法 选择2012年6月至2014年2月,在郑州大学基础医学院围产门诊就诊的单胎妊娠孕妇5 566例,孕周11-13^＋6周。测定其血清标志物妊娠相关蛋白A（PAPP-A）、β-h CG水平,分析孕早期血清二联筛查方法的假阳性率以及阳性预测值。结果 接受孕早期血清二联筛查的孕妇,〈35岁的5 230例,筛查出唐氏高风险病例332例,筛查阳性率6.3%,假阳性率6.3%,阳性预测值0.9%,假阴性率0.041%;≥35岁的336例,筛查阳性率33%,假阳性率29.1%,阳性预测值4.5%,假阴性率0.444%。结论 孕早期唐氏综合征血清二联筛查对孕早期妇女有很好的实用价值,筛查所有孕早期妇女能检出大部分唐氏儿,减少不必要的侵入性检查和胎儿丢失。

Objective To evaluate the practical value of the first - trimester maternal serum screening for Down＇s syndrome. Methods Totally 5566 patients at 11 - 13^ ＋6 gastation week with natural singleton pregnancy were recruited for this study from Jun 2012 to February 2014. Detected serum markers of PAPP - A, β - hCG level, and evaluated the false positive rate and the positive predictive value. Results The number of pregnant women who were under 35 years old was 5230. 332 pregnant women were found with high risk of Down syndrome. Positive rate is 6. 3%, with false positive rate 6. 3%. The positive predictive value was 0. 9% and the false negative was 0. 041%. 336 women who were more than 35 years old were also received prenatal screening. The positive rate is 33% and the positive predictive value was 4. 5% with false positive rate 29. 1% while the false negative was 0. 444%. Conclusion The first - trimester screening for Down＇s syndrome by maternal serum combined with ultrosound is an effective tool to find fetus with Down syndrome and all pregnant women should do this screening test.