Abstract：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< 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.
王力, 桂定清, 张讯, 张力. 超声与血清学及两者联合对21-三体综合征的诊断价值[J]. 河北医学, 2021, 27(11): 1856-1860.
WANG Li, GUI Dingqing, et al. Diagnostic Value of Ultrasonography, Serology and Their Combination in Trisomy 21 Syndrome. HeBei Med, 2021, 27(11): 1856-1860.
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2021, Vol. 27 
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