无创产前基因检测筛查胎儿性染色体异常(1).pdf

无创产前基因检测筛查胎儿性染色体异常 孟繁杰 ;罗丽双;于月新 ;张宁;郝冬梅 【摘要】Objective To explore the clinical significance of non-invasive prenatal genetic testing to screen prenatal fetal chromosomal abnormalities. Methods Peripheral blood was collected from 6 283 pregnant women who underwent non-invasive prenatal genetic testing at our hospital, and fetal DNA was extracted and purified for analysis. The complementary base principle of semiconductor chip technology was used to analyze all sequenced signals with BioelectronSeq 4000. Invasive prenatal diagnosis was performed in high-risk pregnant women according to the results of the sex chromosome sequencing signal analysis. Results Of the 6 283 pregnant women screened, 14 were found to have chromosomal abnormalities, and the positive rate was 0. 22％. Karyotype analysis was performed on 11 of the women; the remaining 3 refused to be diagnosed. Of these 11 women, 2 of the 5 patients with a high risk of XO were diagnosed with fetal chromosomal abnormalities (diagnosed as XO/XXX chimera and XO, respectively), and 3 were diagnosed with a normal karyotype; 5 patients with a high risk of XXY were diagnosed as XXY; and 1 patient with a high risk of XXX was confirmed as XXX. NIPT accuracy was measured to be 73 ％ (8/11). The detection rate of fetal chromosomal abnormalities by non-invasive prenatal genetic testing was significantly higher in the years 2015-2016 than in 2011-2014 (P＜ 0. 05). Conclusion Non-invasive prenatal genetic testing for screening chromosomal abnormalities has a high a uracy rate and could improve the detection rate of fetal chromosomal abnormalities.% 目的 探讨无创产前 基因检测产前筛查胎儿性染色体异常的临床意义.方法对在我院进行无创产前基因 检测的 6283 例孕妇采集外周血,提取纯化胎儿游离 DNA 在 BioelectronSeq 4000 上利用半导体芯片技术应用碱基互补原理对所有测序信号进行分析,对测序信号分 析结果显示性染色体高危的孕妇进行侵入性产前诊断.结果 6283 例患者中筛查出 性染色体异常 14 例,筛查阳性率为 0. 22％.其中 3 例患者拒绝诊断,其余 11 例患者 进行了核型分析.11 例患者中,5 例 XO 高危中有 2 例确诊为胎儿性染色体异常(其 中 1 例确诊为 XO/XXX 嵌合体,另外 1 例确诊为 XO),3 例确诊为正常核型;5 例 XXY 高危均确诊为 XXY;1