无创产前DNA检测可有效筛查唐氏综合症降低出生缺陷

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英文篇名：Non-invasive Prenatal DNA Testing could Effectively Screen Down Syndrome to Reduce Birth Defects 作者：欧阳宁 英文作者：Ouyang Ning;Pingxiang Maternal and Child Healthcare Hospital; 关键词：产前DNA检测 ; 唐氏综合征 ; 缺陷研究 ; 诊断效果 英文关键词：Prenatal DNA detection;;Down's syndrome;;Defect research;;Diagnostic effect 中文刊名：GXNB 英文刊名：Genomics and Applied Biology 机构：萍乡市妇幼保健院; 出版日期：2019-04-25 出版单位：基因组学与应用生物学 年：2019 期：v.38 语种：中文; 页：GXNB201904066 页数：6 CN：04 ISSN：45-1369/Q 分类号：474-479

摘要

为了探究无创产前DNA检测筛查唐氏综合症降低出生缺陷的效果,本研究选择2012年4月至2017年12月我院收治的孕期产检6 192例孕妇作为研究对象,应用DNA测序方法对孕妇血浆中胎儿游离DNA进行染色体非整倍体检测,并检测其灵敏度和特异性,同时采用羊水核型分析两种结果。研究显示,阳性共73例,69例做了进一步检查,显示40例胎儿染色体检查核型正常继续妊娠,29例染色体异常。比较不同年龄组的孕妇血清学筛查唐氏综合征高风险情况,研究表明随着孕妇年龄的增加,DS阳性率逐渐降低(p<0.05);血清学筛查后胎儿游离DNA (cffDNA)检测与染色体核型分析的阳性例数基本一致(p>0.05)。本研究表明,采用产前无创检测胎儿游离DNA操作方便,检测灵敏度和特异性高,不会对胎儿的正常发育造成不良影响,且阳性检测率与羊水核染色体核型结果基本相同,是无创产前诊断唐氏综合征的重要方法,值得在临床上推广使用。
        In order to explore the effect of non-invasive prenatal DNA testing on screening down syndrome to reduce birth defects, 6 192 pregnant women who were admitted to our hospital from April 2012 to December 2017 were selected as subjects in this study. The chromosome aneuploidy of fetal free DNA in maternal plasma was detected by DNA sequencing method, and its sensitivity and specificity were also tested. Amniotic fluid karyotype analysis was used to analyze the two results. Results showed that 73 cases were positive, 69 of them underwent further examination. Chromosome examination showed that 40 cases had normal karyotype and continued pregnancy, 29 cases had chromosome abnormalities. Comparing the high risk of Down syndrome in serological screening among pregnant women of different age groups, the study showed that the positive rate of DS decreased gradually with the increase of elderly pregnant women(p<0.05); After serological screening, the positive cases of fetal free DNA(cffDNA) detection and chromosome karyotype analysis were basically the same(p>0.05). This study indicated that prenatal non-invasive detection of fetal free DNA was easy to operate, with high sensitivity and specificity, and would not cause adverse effects on the normal development of the fetus, and the positive detection rate and amniotic fluid nuclear chromosome karyotype results were basically the same. It might be an important method for non-invasive prenatal diagnosis of Down syndrome, and would be worthy popularizing in clinic.

引文

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