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目的探讨唐氏筛查联合外周血游离胎儿DNA检测(又称:无创基因检测)的临床意义。方法选取2013年1月-2016年9月有我院送检,同时行唐氏筛查和无创基因检测的孕妇5512例为研究对象,所有高危孕妇均做羊水培养染色体核型分析以便确诊。比较两种检查方法阳性率、假阳性率和诊断准确率。结果唐氏筛查结果提示18位孕妇存在高风险,而母血游离DNA检测提示9例存在高风险,高风险病例经染色体核型分析确诊表明:唐氏筛查阳性率为0.33%,假阳性率为0.16%,其准确率仅为50%,而无创基因筛查结果提示其阳性率为0.16%,假阳性率为0%,准确率高达100%。结论外周血游离胎儿DNA检测的敏感性和特异性比普通的血清筛查要高,但综合考虑经济和便利等因素,建议在唐氏筛查高危的基础上做无创基因检测,以提高确诊唐氏综合征的准确率。
Objective To investigate the clinical significance of Down’s screening in combination with peripheral blood free fetal DNA testing (also known as non-invasive genetic testing). Methods From January 2013 to September 2016, 5512 pregnant women who were examined in our hospital, while Down’s screening and non-invasive genetic testing were selected as the research object. All high-risk pregnant women were diagnosed by amniotic fluid chromosome karyotype analysis. The positive rate, false positive rate and diagnostic accuracy of the two methods were compared. Results Down’s screening showed that 18 pregnant women were at high risk, while maternal blood free DNA test showed that 9 cases were at high risk. High-risk cases confirmed by chromosomal karyotype analysis showed that the positive rate of Down’s screening was 0.33%, false-positive The rate of 0.16% was only 50%. However, the noninvasive genetic screening results showed that the positive rate was 0.16%, the false positive rate was 0% and the accuracy rate was 100%. Conclusion The sensitivity and specificity of peripheral blood free fetal DNA testing is higher than that of normal serum screening. However, considering the factors such as economy and convenience, it is suggested to do non-invasive genetic testing on the basis of Down’s screening high risk so as to improve the accuracy of diagnosing Tang The accuracy of the syndrome.