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胎儿染色体非整倍体产前筛查中无创产前基因检测的临床价值

The clinical value of noninvasive prenatal gene detection in prenatal screening for fetal chromosome aneuploidy

  • 摘要: 目的 探讨胎儿染色体非整倍体产前筛查中无创产前基因检测的临床价值。方法 选择2017年1月-2018年3月深圳市龙岗区妇幼保健院进行无创产前基因检测的900例单胎孕妇作为研究对象。采集孕妇外周静脉血并游离出DNA,后进行高通量测序。对高风险产妇进行羊膜腔或脐静脉穿刺并行染色体核型检测。结果 900例单胎孕妇外周血检测发现,高风险11例,阳性检出率为1.22%,其中21-三体综合征7例,13-三体综合征1例,18-三体综合征3例。无创产前基因检测筛查的11例高风险孕妇进行染色体核型分析,结果显示:无创产前基因检测与染色体核型分析结果的诊断符合率为100.0%;高风险孕妇多有高龄、NT增厚、唐氏筛查提示高风险等无创检测的指征,21-三体综合征染色体核型为(47,XN,+21),13-三体综合征染色体核型为(47,XXX),18-三体综合征染色体核型为(47,XN,+18),孕妇均终止妊娠。结论 无创产前基因检测对胎儿染色体非整倍体疾病具诊断符合率较高,具有无创、敏感性高、安全性高的优点,早期筛查胎儿缺陷疾病,值得临床选择。

     

    Abstract: Objective To explore the clinical value of non-invasive prenatal gene detection in prenatal screening for fetal chromosome aneuploidy.Methods 900 single pregnant women who were tested for noninvasive prenatal gene in our hospital from January 2017 to March 2018 were selected as the subjects. The peripheral venous blood of pregnant women was collected and DNA was free, and the high flux was sequenced. High risk parturients were examined by amniotic cavity or umbilical vein puncture and karyotype detection.Results Among 900 single pregnant women, 11 cases were detected with high risk by testing peripheral blood, and the positive rate was 1.22%. Among them, 7 cases were 21-trisomy syndrome, 1 case was 13-trisomy syndrome, and 3 cases were 18-trisomy syndrome. The chromosomal karyotype analysis of 11 high-risk pregnant women screened by noninvasive prenatal gene detection showed that the coincidence rate of noninvasive prenatal gene detection and chromosome karyotype analysis was 100%. High risk pregnant women had the followingindicators of noninvasive detection:elder age, NT thickening, Down syndrome. The karyotype of 21-trisomy syndrome was (47, XN, + 21), the chromosome karyotype of 13-trisomy syndrome was (47, XXX), the karyotype of 18-trisomy syndrome was (47, XN, + 18). All of the pregnant women with high risk terminated pregnancy.Conclusion Noninvasive prenatal gene detection has higher diagnostic accuracy for fetal chromosomal aneuploidy. It has the advantages of noninvasive, high sensitivity and high safety. Early screening for fetal defects has worthy of clinical value.

     

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