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目的探讨无创产前基因检测技术检测胎儿性染色体异常中的应用价值,以及分析其检测出的胎儿性染色体异常中不同核型之间的假阳性情况。方法选取2015年2月-2016年6月在我院进行无创产前基因检测的6972例单活胎孕妇,收集外周血标本并提取胎儿游离DNA,制备文库,利用高通量测序技术进行测序分析,对提示性染色体非整倍体异常的孕妇进行羊膜穿刺检查羊水细胞染色体核型检查。对所有被检测者进行随访。结果 1 6972例标本中,无创产期基因检测提示胎儿性染色体非整倍体异常20例,经知情同意,19例孕妇自愿接受羊水穿刺,其中8例羊水染色体核型结果与NIPT结果一致,均已自然流产或引产,包括45,X 2例,45,X,rob(14;21)1例,45,X[43]/46,XY[7]1例,47,XXY 2例,47,XYY 1例,47,XXX 1例。2 6972例标本中,NIPT对性染色体非整倍体异常检出率为0.29%(20/6972),假阳性率58%(11/19),其中XO、XXY、XYY、XXX的假阳性率依次为70%(4/13),0,50%(1/2),50%(1/2)。结论无创产前基因检测可应用于胎儿性染色体异常检测,但是其对X单体假阳性率高,仍需进一步产前诊断确诊。
Objective To investigate the value of noninvasive prenatal genetic testing in detection of fetal chromosomal abnormalities and to analyze the false positives among different karyotypes in fetal chromosomal abnormalities. Methods 6972 single pregnant women with non-invasive prenatal genetic testing in our hospital from February 2015 to June 2016 were collected and peripheral blood samples were collected and fetal DNA was extracted. The library was prepared and sequenced by high-throughput sequencing , Amniocentesis of amniocentesis in pregnant women with suggestive aneuploidy and karyotype examination of amniotic fluid cells. All subjects were followed up. Results Of the 1 6972 specimens, 20 cases of fetal chromosomal aneuploidy were detected by noninvasive genomic DNA test and 19 cases of pregnant women received amniocentesis voluntarily by informed consent. Among them, 8 cases of amniotic fluid chromosome karyotype were consistent with NIPT results Have spontaneous abortion or induced abortion, including 45 cases of X 2 cases, 45 cases of X, rob (14; 21) in 1 case, 45 cases of X [43] / 46 cases of XY [7] XYY 1 case, 47, XXX 1 case. Among 2 6972 samples, the positive rate of aneuploidy of NIPT was 0.29% (20/6972) and the false positive rate was 58% (11/19), in which the false positive rate of XO, XXY, XYY and XXX Followed by 70% (4/13), 0,50% (1/2), 50% (1/2). Conclusion Noninvasive prenatal gene testing can be applied to the detection of fetal chromosomal abnormalities. However, the false positive rate of X monomers is still high, and further prenatal diagnosis is still needed.