血清ADAM12与PAPP-A水平检测在孕早中期唐氏综合征产前筛查诊断中的应用价值探究

Application value of serum ADAM12 and PAPP-A levels in prenatal screening diagnosis of Down syndrome in early and middle pregnancy

目的探究血清解整合素-金属蛋白酶12(ADAM12)及妊娠相关蛋白A(PAPP-A)水平检测在孕早期唐氏综合征(DS)产前筛查诊断中的应用价值。方法选取2017年6月—2019年6月成都市妇女儿童中心医院确诊为唐氏综合征的35例孕妇为DS组,另选取同期正常妊娠结局的600例孕妇为正常组,收集所有孕妇产前筛查资料包括孕早中期血清ADAM12、PAPP-A等血清学检测结果,比较方案A(ADAM12+PAPP-A)、方案B(AFP、freeβ-HCG及uE3三联筛查)及方案C(ADAM12+PAPP-A+三联筛查)对DS的筛查结果,并采用受试者操作特征(ROC)曲线分析不同筛查方案对DS筛查的诊断效能。结果 DS组孕妇孕早期血清ADAM12、PAPP-A水平MOM值明显低于正常组,比较差异均有统计学意义(均P<0.001);三种方案DS筛查阳性率比较差异有统计学意义(P<0.05),其中方案C筛查阳性率(6.25%)最接近研究中DS比例(5.51%);方案C的DS检出率(96.43%)最高,假阳性率(1.17%)最低,三种方案比较差异有统计学意义(均P<0.05);ROC曲线分析显示,方案A、方案B及方案C诊断DS的曲线下面积(AUC)分别为0.752、0.813、0.930,均>0.5,具有诊断效能,其中方案C的AUC最大,三种方案比较差异有统计学意义(P<0.001)。结论孕早期血清ADAM12、PAPP-A水平是DS产前筛查较为敏感的指标,可有效辅助产前DS的筛查诊断,且联合三联筛查可显著提高检出率,降低假阳性率,具有一定的临床价值。

Objective To explore the application value of serum disintegrin-metalloproteinase 12(ADAM 12) and pregnancy-associated protein A(PAPP-A) in the diagnosis of Down syndrome in early pregnancy.Methods Thirty-five pregnant women diagnosed with Down syndrome(DS) in our hospital from June 2017 to June 2019 were selected as the DS group,and 600 pregnant women with normal pregnancy outcomes during the same period were selected as the normal group.All pregnant women were collected.Pre-screening data include serological results of serum ADAM 12,PAPP-A and other early and second trimesters,compared with Option A(ADAM12+PAPP-A),Option B(AFP,free β-HCG,and uE3 triple screening) and Option C(ADAM 12+PAPP-A+triple screening) screening results of DS,and ROC curve analysis of the screening diagnostic effectiveness of DS using different screening schemes.Results The serum levels of ADAM 12 and PAPP-A in the DS group were significantly lower than those in the normal group during the first trimester of pregnancy,and the differences were statistically significant(all P<0.001);the positive rates of DS screening in the three schemes.The difference was statistically significant(P<0.05).The positive rate of screening in protocol C(6.25%) was closest to the proportion of DS in the study(5.51%).The detection rate of DS in protocol C(96.43%) was the highest,and the false positive rate was(1.17%) was the lowest,and the difference between the three schemes was statistically significant(all P<0.05);ROC curve analysis showed that the AUCs for DS diagnosed by scheme A,scheme B,and scheme C were 0.752,0.813,and 0.930,all of which were> 0.5,Has diagnostic power,of which the AUC of scheme C is the largest,and the difference between the three groups is statistically significant(P <0.001).Conclusion The serum levels of ADAM12 and PAPP-A in early pregnancy are more sensitive indicators of DS prenatal screening,which can effectively assist the screening diagnosis of DS,and combined triple screening can significantly increase the detection rate and reduce the false positive rate.Worth clinical promotion.