论文部分内容阅读
目的比较孕中期筛查方案与早中孕整合筛查方案的临床效果,探讨早中孕整合筛查方案的实用价值。方法孕早期应用超声测量胎儿颈项半透明层厚度(nuchal translucency,NT),应用时间分辨荧光免疫方法(DELFIA)检测孕早期母血清标志物PAPP-A、Freeβ-HCG、孕中期母血清标志物AFP、Freeβ-HCG和uE3,分别采用孕中期三联筛查方案(AFP、Freeβ-HCG和uE3)和早中孕整合筛查方案(孕早期NT、PAPP-A和Freeβ-HCG,孕中期AFP、Freeβ-HCG和uE3),利用Lifecycle3.0风险分析统计软件计算胎儿发生唐氏综合征(Down’s syndrome,DS)和18三体综合征(Edwards syndrome,ES)的危险概率,并进行产前诊断及随访妊娠结局,筛查效果比对分析。结果 1437例孕妇采用孕中期筛查方案筛查阳性率为4.73%(68/1437);采用早中孕整合筛查方案筛查阳性率为1.81%(26/1437);孕中期筛查与早中孕整合筛查两种方案用配对资料χ2检验,χ2=26.7,P<0.05,两种方法之间差异有显著意义;确诊4例胎儿核型异常,早中孕整合筛查全部检出,而孕中期筛查只检出2例,1例DS和1例ES的孕妇为中孕期筛查低风险而早中孕整合筛查高风险。结论早中孕整合筛查方案的临床效果优于孕中期筛查,筛查方案的改进能提高唐氏综合征和18三体综合征的检出率,降低假阳性率,从而有效干预出生缺陷。
Objective To compare the clinical efficacy of the screening program in the second trimester with the integrated screening program in early pregnancy and middle pregnancy to explore the practical value of the integrated screening program in early pregnancy and pregnancy. Methods The fetal neck translucency (NT) was measured by using ultrasound in the first trimester of pregnancy. The serum levels of PAPP-A, Freeβ-HCG and AFP in the second trimester of pregnant women were detected by the time-resolved fluorescence immunoassay (DELFIA) (AFP, Freeβ-HCG and uE3) and early pregnancy and mid-pregnancy screening programs (NT, PAPP-A and Freeβ-HCG in the first trimester, AFP in the second trimester, Freeβ -HCG and uE3) were used to calculate the risk of fetal Down’s syndrome (DS) and Edwards syndrome (ES) risk using Lifecycle 3.0 risk analysis software, and prenatal diagnosis and follow-up Pregnancy outcome, comparison of screening results. Results The positive rate of 1437 pregnant women was 4.73% (68/1437) in the second trimester screening test. The positive screening rate was 1.81% (26/1437) Two methods of integrated screening screening in pregnancy using paired data χ2 test, χ2 = 26.7, P <0.05, the difference between the two methods have significant significance; diagnosed 4 cases of fetal karyotype abnormalities, In the second trimester of screening, only 2 cases were detected. One case of DS and one case of ES were low risk of screening in the second trimester and high risk of early trimester screening. Conclusion The clinical effect of integrated screening program in early pregnancy and middle pregnancy is better than that in the second trimester. The improvement of screening program can improve the detection rate of Down’s syndrome and trisomy 18, reduce the false positive rate and effectively interfere with birth defects .