无创DNA检测技术在胎儿染色体疾病筛查中的应用效果观察及价值研究

发布时间：2018-05-07 00:30

本文选题：无创DNA检测技术 + 胎儿染色体非整倍体　；参考：《中国医学创新》2016年35期

【摘要】：目的:探讨无创DNA检测技术在胎儿染色体非整倍体筛查中的应用效果观察及价值。方法:回顾性分析2013年12月-2015年12月于本院产前筛查中心通过无创DNA检测技术进行筛查的1782例孕妇的产前筛查资料,评估胎儿患21-三体(唐氏,Down)综合征、18-三体(爱得华氏,Edwards)综合征及13-三体(Patau)综合征、性染色体疾病的风险,观察无创DNA检测技术筛查结果及其对胎儿染色体非整倍体诊断的灵敏度、误诊率及准确性。结果:1782例受检孕妇外周血胎儿DNA样本中,染色体疾病阳性23例,其中Down综合征9例,Edwards综合征2例,Patau综合征1例,性染色体疾病7例,其他染色体疾病4例;阴性1759例。将阳性结果与羊水穿刺染色体核型分析结果进行对比分析后发现,筛查出的Down综合征中有1例为假阳性,Edwards综合征、Patau综合征、性染色体疾病及其他染色体疾病中均无假阳性,经随访观察,1759例阴性结果中无假阴性,无创DNA检测技术检测胎儿Down综合征的灵敏度为100%(8/8),误诊率为0.06%(1/1760),准确率为88.89%(8/9),无创DNA检测技术检测胎儿Edwards综合征及Patau综合征的灵敏度及准确性均为100%,误诊率为0。参考金标准检测结果可知,1782例受检孕妇中胎儿患染色体疾病总风险率为1.23%(22/1782),其中Down综合征的风险率为0.45%(8/1782),Edwards综合征的风险率为0.11%(2/1782),Patau综合征的风险率为0.06%(1/1782),性染色体疾病的风险率为0.39%(7/1782),其他染色体疾病的风险率为0.22%(4/1782)。结论:无创DNA检测技术在胎儿染色体疾病筛查中可有效提高产前筛查确诊率,其敏感性、准确性较高,能够方便、快捷地检测出染色体数目异常,是临床价值较高的产前筛查方法。
[Abstract]:Objective: to investigate the effect and value of noninvasive DNA in fetal chromosome aneuploidy screening. Methods: the data of 1782 pregnant women who were screened by non-invasive DNA technique in our hospital from December 2013 to December 2015 were analyzed retrospectively. To assess the risk of sexual chromosome disease in fetuses with 21-trisomy (Down) syndrome, 18-trisomy (Edwards) syndrome and 13-trisomy Patausyndrome, To observe the results of noninvasive DNA screening and its sensitivity, misdiagnosis rate and accuracy in the diagnosis of fetal chromosomal aneuploidy. Results of the 1 782 pregnant women, 23 were positive for chromosomal diseases, including 9 cases of Down syndrome, 2 cases of Down syndrome, 7 cases of sex chromosome disease, 4 cases of other chromosomal diseases, and 1759 cases of negative chromosome disease, among them, 9 cases were Down syndrome, 2 cases were Down syndrome, 7 cases were sex chromosome disease, 4 cases were other chromosomal diseases. By comparing the positive results with the results of chromosome karyotype analysis in amniocentesis, it was found that one of the screened Down syndrome was false positive Edwards syndrome Patau syndrome, and no false positive was found in sex chromosome diseases and other chromosomal diseases. There were no false negative results in 1759 cases. The sensitivity of noninvasive DNA in detecting fetal Down syndrome was 100 / 8 / 8, the misdiagnosis rate was 0.06 / 1760%, and the accuracy was 88.8989 / 8 / 9. The sensitivity and accuracy of noninvasive DNA technique in detecting fetal Edwards syndrome and Patau syndrome were 100% and 0% respectively. The results of reference gold standard test showed that the total risk rate of chromosomal diseases in the fetuses of 1782 pregnant women tested was 1.23 and the risk rate of Down syndrome was 0.4550 / 1782. The risk rate of Down syndrome was 0.11 / 2 / 1782 / Patau syndrome, 0.066% / 1782% and 0.066% / 1782% respectively, and the risk rate of Down syndrome was 0.066% / 1782%, and the risk rate of Down's syndrome was 0.45% / 1782% / 0.11% / 1 782% respectively, and the risk rate of sexual chromosome disease was 0.066% / 1782%, respectively. The risk rate is 0.39 / 1782, and the risk rate for other chromosomal diseases is 0.22 / 1782. Conclusion: Non-invasive DNA can effectively improve the diagnostic rate of prenatal screening for fetal chromosomal diseases, and its sensitivity, accuracy, convenience and speed can be used to detect chromosomal abnormalities. It is a high clinical value of prenatal screening method.
【作者单位】：广东省阳江市妇幼保健院;
【分类号】：R714.53

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