孕中期血清PAPP-A、inhibitin A、ADAM12联合NIPT在胎儿唐氏综合征筛查中的应用

Application of serum PAPP-A,inhibitin A,ADAM12 combined with NIPT in the screening of fetal Down's syndrome in the second trimester

目的探究孕中期血清妊娠相关血浆蛋白A(PAPP-A)、抑制素A(inhibin A)、去整合素金属蛋白酶12(ADAM12)联合非侵入性产前检测(NIPT)在胎儿唐氏综合征筛查中的应用效果。方法选取2021年1月至2023年3月在开封市妇幼保健院围产保健科行唐氏综合征筛查并确诊的孕妇41例作为病例组,另选41例同期正常孕妇作为对照组,比较两组孕妇孕中期的血清PAPP-A、inhibitin A、ADAM12水平及NIPT检查结果,并采用受试者工作特征曲线(ROC)分析各指标对胎儿唐氏综合征的诊断价值。结果研究组孕妇的血清PAPP-A和ADAM12水平分别为(0.14±0.06)mIU/mL、(789.56±56.15)μg/L,明显低于对照组的(0.28±0.12)mIU/mL、(987.26±67.06)μg/L,inhibitin A水平为(2.33±0.87)pg/mL,明显高于对照组的(0.97±0.21)pg/mL,差异均有统计学意义(P<0.05);经ROC分析结果显示,血清PAPP-A、inhibitin A、ADAM12、NIPT及NIPT联合各指标诊断唐氏综合征的AUC值分别为0.714、0.775、0.709、0.890、0.939。结论孕中期血清PAPP-A、inhibitin A、ADAM12联合NIPT可用于胎儿唐氏综合征的筛查,具有潜在的临床应用前景。

Objective To investigate the effect of serum pregnancy-associated plasma protein A(PAPP-A),inhibitin A,and recombinant A disintegrin and metalloprotease 12(ADAM12)combined with noninvasive prenatal testing(NIPT)in the screening of fetal Down's syndrome in the second trimester.Methods Forty-one pregnant women who were screened and diagnosed as Down's syndrome from January 2021 to March 2023 were selected as the study group,and another 41 normal pregnant women during the same period were selected as the control group.The serum levels of PAPP-A,inhibitin A,ADAM12,and the results of NIPT in the second trimester were compared between the two groups.The diagnostic value of the indexes for fetal Down syndrome was analyzed by receiver operating characteristic(ROC)curve.Results In the study group,the levels of serum PAPP-A and ADAM12 were(0.14±0.06)mIU/mL and(789.56±56.15)μg/L,respectively,which were significantly lower than(0.28±0.12)mIU/mL and(987.26±67.06)μg/L in the control group;the level of inhibitin A was(2.33±0.87)pg/mL,significantly higher than(0.97±0.21)pg/mL in the control group;the differences were statistically significant(P<0.05).ROC curve showed that the area under the curve(AUC)of serum PAPP-A,inhibitin A,ADAM12,NIPT alone and in combination for the diagnosis of Down's syndrome were 0.714,0.775,0.709,0.890,0.939,respectively.Conclusion PAPP-A,inhibitin A,and ADAM12 combined with NIPT can be effectively used for screening fetal Down's syndrome in the second trimester,which has great potential for clinical application.