无创产前基因检测与传统唐筛效果的对比研究

Comparative study on the effect of noninvasive prenatal gene detection and traditional Down’s screening

目的比较分析无创产前基因检测与传统唐氏筛查的临床应用价值。方法选取2018年1-12月在山东省聊城市东昌府区妇幼保健院产前诊断中心同时行无创产前基因检测和传统唐氏筛查的孕妇689例,将检测结果异常的孕妇全部召回,进行遗传咨询并建议行产前诊断,所有孕妇的妊娠结局全部进行了追访。比较两种检测方法的21-三体风险检测情况和21-三体核型确诊及筛查指标。结果 689例孕妇中,羊水穿刺25例,确诊21-三体12例。其中无创产前基因检测检出21-三体高风险12例,传统唐氏筛查检出21-三体高风险孕妇56例,确诊21-三体10例,漏检2例。针对21-三体综合征的检出,无创产前基因检测的诊断敏感性、特异性、准确性、阳性预测值和阴性预测值,均明显高于传统唐氏筛查,差异均有统计学意义(P<0.05)。结论无创产前基因检测应用于产前筛查和产前诊断,可以提高人口质量,实现优生优育,具有较高的临床推广价值。

Objective To compare and analyze the clinical application value of noninvasive prenatal gene detection and traditional Down’s screening. Methods From January to December 2018,689 pregnant women who underwent noninvasive prenatal gene detection and traditional Down’s screening were selected from the Prenatal Diagnosis Center of Dongchangfu Maternal and Child Health Hospital,Liaocheng City,Shandong Province. All pregnant women with abnormal results were recalled for genetic consultation and prenatal diagnosis was recommended. The pregnancy outcomes of all pregnant women were followed up.The detection condition of risk of trisomy 21 and Karyotype diagnosis and screening indicators of trisomy21 were compared between two detection methods. Results Among 689 pregnant women,25 cases were amniocentesis and 12 cases were diagnosed as trisomy 21. Among them,12 cases with high risk of 21 trisomy were detected by noninvasive prenatal gene detection. Fifty-six pregnant women with high risk of21 trisomy were detected by traditional Down’s screening,10 cases were diagnosed as 21 trisomy,and 2 cases were missed. For the detection of 21 trisomy syndrome,the diagnostic sensitivity,specificity,accuracy,positive predictive value and negative predictive value of noninvasive prenatal gene detection were significantly higher than those of traditional Down’s screening,and the differences were statistically significant(P<0.05). Conclusion Noninvasive prenatal gene detection applied in prenatal screening and prenatal diagnosis could improve the quality of the population,achieve eugenics,and had a higher clinical value.