超声与血清学及两者联合对21-三体综合征的诊断价值

Diagnostic Value of Ultrasonography,Serology and Their Combination in Trisomy 21 Syndrome

目的:探讨超声与血清学联合检测对21-三体综合征的筛查及诊断价值。方法:选取2017年1月至2021年3月在本院进行产检的孕妇1500例为研究对象,患者均进行超声及血清学检测,对结果提示21-三体综合征孕妇建议其进行羊水染色体筛查确诊,未行羊水染色体筛查者则进行结果随访。比较超声、血清学单独及联合检测对21-三体综合征的检出率,以Kappa检验分析三者与金标准的一致性,并以ROC曲线评估三者对21-三体综合征的诊断价值。结果:1500孕妇经羊水染色体与随访结果共确诊21-三体综合征218例,其中超声检出高风险165例、低风险53例;血清学检测检出高风险183例、低风险35例;联合检查检出高风险204例、低风险14例;与金标准检查结果比较一致性均较好(Kappa=0.501、0.647、0.895,P<0.05)。ROC分析显示,超声血清学及两者联合诊断21-三体综合征的AUC分别为0.809、0.874、0.958;敏感度、特异度、阳性预测值、阴性预测值及准确率分别为75.69%、86.19%、48.24%、95.42%、84.67%;血清学诊断分别83.95%、90.87%、61.0%、97.08%、89.87%;二者联合诊断分别93.58%、97.97%、88.70%、98.90%、97.33%,均具有一定价值。结论:产前超声、血清学在产前21-三体综合征筛查中的价值均较高,但二者联合诊断价值更佳。

Objective:To investigate the diagnostic value of ultrasonography combined with serology for trisomy 21 syndrome.Methods:1500 pregnant women for Production inspection from January 2017 to March 2021 in our hospital were selected as the research object,and were detected with ultrasound and serological.Those who were diagnosed with trisomy 21 syndrome were suggested to have amniotic fluid chromosome screening,and to be followed-up if not had amniotic fluid chromosome screening.The detection rates of trisomy 21 syndrome with ultrasonography and serology,alone or combined,were compared,the consistency of the three tests with the gold standard was analyzed by Kappa test,and the diagnostic value of the three tests for trisomy 21 syndrome was evaluated by ROC curve.Results:A total of 218 cases of trisomy 21-syndrome were diagnosed by amniotic fluid chromosome and follow-up results of 1500 pregnant women,among which 165 cases were detected as high risk and 53 cases as low risk by ultrasound.Serological tests showed high risk in 183 cases and low risk in 35 cases.Joint examination revealed 204 cases with high risk and 14 cases with low risk.Compared with the gold standard test results(Kappa=0.501,0.647,0.895,P&lt;0.05).ROC analysis showed that the AUC of ultrasonic serology and combined diagnosis of trisomy 21 syndrome were 0.809,0.874 and 0.958,respectively.The sensitivity,specificity,positive predictive value,negative predictive value and accuracy were 75.69%,86.19%,48.24%,95.42%,84.67%,respectively.Serological diagnosis was 83.95%,90.87%,61.0%,97.08%,89.87%,respectively;the combined diagnosis was 93.58%,97.97%,88.70%,98.90%,and 97.33%,respectively,both of which were of certain value.Conclusion:Both prenatal ultrasound and serology have higher value in prenatal screening for trisomy 21 syndrome,but the combined diagnosis value of the two is better.