超声联合染色体筛查在Down’s综合征诊断中的应用

Application of Ultrasound Combined Chromosome Screening in Diagnosis of Down’s Syndrome

目的探究超声联合染色体非整倍体无创DNA产前检测(Non-invasive prenatal genetic testing,NIPT)在Down’s综合征(DS)诊断中的应用。方法回顾性收集2020年6月-2023年6月太康县人民医院收治的疑似DS高危患者210例为研究对象,通过超声、NIPT及两项联合对DS进行诊断,与羊水细胞染色体核型分析结果进行对比,采用ROC曲线分析三者诊断敏感度、特异性、准确性与诊断价值。结果在210例疑似DS患者中,经羊水细胞染色体核型分析证实,DS患者26例(12.38%,26/210),非DS患者184例(87.62%,184/210)。以羊水细胞染色体核型分析结果作为金标准,超声诊断DS的敏感度为69.23%(18/26),特异度为92.93%(171/184),超声诊断DS与羊水细胞染色体核型分析结果相比两者一致性一般(Kappa=0.574);NIPT诊断DS的敏感度为84.62%(22/26),特异度为97.83%(180/184),NIPT诊断DS与羊水细胞染色体核型分析结果相比两者一致性较好(Kappa=0.806);两项联合诊断DS的敏感度为92.31%(24/26),特异度为98.37%(181/184);两项联合诊断DS与羊水细胞染色体核型分析结果相比两者一致性较好(Kappa=0.892)。两项联合检出率明显高于超声检查,且两项联合、NIPT检查诊断误诊率均明显低于超声检查(P<0.05)。ROC曲线分析显示,超声、染色体筛查、两项联合检查诊断DS的AUC为0.811、0.871、0.953,提示两项联合检查对DS的诊断价值更高。结论超声联合染色体筛查进行DS诊断具有高准确性,利于提高孕妇接受度,具有较高临床价值,值得临床推广应用。

Objective To explore the application of ultrasound combined with chromosome aneuploid noninvasive DNA prenatal detection(Non-invasive prenatal genetic testing,NIPT)in the diagnosis of Down’s syndrome.Methods Retrospectively,210 cases of suspected DS high-risk patients admitted to Taikang County People’s Hospital from June 2020 to June 2023 were collected as the study subjects,and DS was diagnosed by ultrasound,NIPT and the combination of the two,and compared with the results of the amniotic fluid cytokine karyotyping analysis,and the ROC curve was used to analyze the diagnostic sensitivity,specificity,accuracy and diagnostic value of the three diagnostic methods.Results Among 210 patients with suspected DS,26 patients with DS(12.38%,26/210)and 184 patients without DS(87.62%,184/210)were confirmed by amniotic fluid cytokine karyotype analysis.Using the results of amniotic fluid cell karyotype analysis as the gold standard,the sensitivity of ultrasound in diagnosing DS was 69.23%(18/26),the specificity was 92.93%(171/184),and the concordance between ultrasound diagnosis of DS and the results of amniotic fluid cell karyotype analysis was fair(Kappa=0.574).The sensitivity of NIPT for diagnosing DS was 84.62%(22/26),the specificity was 97.83%(180/184),and the agreement between NIPT for diagnosing DS and the results of amniotic fluid cytokine karyotyping was good(Kappa=0.806).The sensitivity of the combined diagnosis of DS was 92.31%(24/26)and the specificity was 98.37%(181/184).The agreement between the combined diagnosis of DS and the results of amniotic fluid cytokine karyotype analysis was good(Kappa=0.892).The detection rate was significantly higher than that of ultrasonography,and the misdiagnosis rate of the two combined tests and NIPT was significantly lower than that of ultrasonography(P<0.05).ROC curve analysis showed that the AUCs of ultrasound,chromosome screening,and the two combined tests for the diagnosis of DS were 0.811,0.871,and 0.953,suggesting that the two combined tests have a higher diagnostic value for DS.Conclusion Ultrasound combined with chromosome screening for the diagnosis of Down’s syndrome has high accuracy and is conducive to improving the acceptance of pregnant women.It has a high clinical value and is worthy of clinical application.