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目的探讨非整倍体无创DNA产前检测在产前筛查及产前诊断的应用及价值。方法回顾性分析2012年9月5日—2013年9月30日在我院就诊有产前诊断指征的孕妇527例,在知情同意的前提下抽取孕妇外周血进行非整倍体无创DNA产前检测。结果在527例孕妇中有13例非整倍体无创DNA产前检测结果异常,其中3例胎儿染色体确诊为唐氏综合征,6例胎儿染色体确诊为性染色体异常,2例胎儿染色体确诊为18三体综合征,2例染色体常规G显带320-400条带分析正常。其灵敏度100%,阴性预测值100%,正确率84.6%。结论非整倍体无创DNA产前检测具有灵敏度、阴性预测值及正确率高等特点,其阳性结果验证宜用脐血染色体验证。
Objective To investigate the value and application of prenatal diagnosis of non-euploid non-invasive DNA in prenatal screening and prenatal diagnosis. Methods 527 pregnant women with prenatal diagnosis indications in our hospital from September 5, 2012 to September 30, 2013 were retrospectively analyzed. Peripheral blood of pregnant women was taken for informed non-aneuploid non-invasive DNA production Pre-test. Results Of the 527 pregnant women, 13 cases of aneuploid non-invasive DNA prenatal test results were abnormal, of which 3 fetuses were diagnosed as Down’s syndrome, 6 fetuses were diagnosed as sex chromosome abnormalities, 2 fetuses were diagnosed as 18 Three body syndrome, 2 cases of chromosome G band 320-400 conventional analysis of normal. The sensitivity of 100%, negative predictive value of 100%, the correct rate of 84.6%. Conclusion Aneuploid non-invasive DNA prenatal testing with sensitivity, negative predictive value and high accuracy, the positive results should be verified by cord blood chromosome.