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目的探讨无创产前基因检测技术与传统唐氏综合征筛查的检查效果。方法选取2015年1—8月在鹤山市妇幼保健院进行唐氏综合征筛查的患者344例为研究对象,所有患者入院后均进行血清筛查和无创产前基因检测检查,比较两种方式的疾病检出率,并将检查结果与实际结果进行对照,比较两种检查方式的准确率。结果血清筛查出高风险患者29例,无创基因筛查出高风险患者15例,两组比较差异有统计学意义(P<0.05);血清筛查出低风险患者315例,无创基因筛查出低风险患者329例,两组比较差异无统计学意义(P>0.05)。血清筛查的阳性率为8.4%,假阳性率为4.1%,诊断准确率为51.7%;无创基因筛查的阳性率为4.4%,假阳性率为0.0%,诊断准确率为100.0%,两组比较差异有统计学意义(P<0.05)。无1例漏诊病例。结论无创产前基因检测在唐氏综合征疾病筛查中准确度更高,效果更好。
Objective To investigate the effect of non-invasive prenatal genetic testing and conventional Down’s syndrome screening. Methods From January to August 2015, 344 patients with Down’s syndrome screening in Heshan City Maternal and Child Health Hospital were enrolled in this study. Serum screening and noninvasive prenatal genetic testing were performed in all patients after admission. Of the disease detection rate, and the test results and the actual results were compared to compare the accuracy of the two test methods. Results There were 29 cases of high-risk serum screening, 15 cases of high-risk non-invasive gene screening, the difference between the two groups was statistically significant (P <0.05); Serum screening of 315 patients with low risk, noninvasive genetic screening 329 patients with low-risk patients, the difference between the two groups was not statistically significant (P> 0.05). Serum screening positive rate was 8.4%, false positive rate was 4.1%, diagnostic accuracy was 51.7%; non-invasive gene screening positive rate was 4.4%, false positive rate was 0.0%, diagnostic accuracy was 100.0%, two The difference was statistically significant (P <0.05). No case of missed diagnosis. Conclusion Noninvasive prenatal genetic testing is more accurate and effective in Down’s syndrome disease screening.