作　　者： ; ; ; ; ; ;

机构地区： 佛山市妇幼保健院

出　　处： 《中国优生与遗传杂志》 2019年第5期542-544,共3页

摘　　要： 目的无创基因检测技术在胎儿非整倍体及性染色体产前筛查中的临床价值。方法2015年1月至2017年12月在知情同意前提下对4709例孕妇抽取静脉血10ml,提取游离DNA,采用新一代高通量测序技术,结合生物信息分析,得出胎儿非整倍体及性染色体的风险率,对21、18、13高风险及可疑性染色异常的孕妇进一步行羊膜腔穿刺术获得染色体核型。结果共筛查出无创基因高风险孕妇107例,其中21三体高风险77例,18三体高风险23例,13三体高风险7例,94例高风险孕妇经介入性产前诊断羊水细胞核型分析,经统计学分析,无创基因21、18、13三体检出率均为100%,漏诊率为0,假阳性率分别为为0.04%(2/4708)、0.08%(4/4708)和0.06%(3/4708),阳性预测值分别为97.1%(67/69)、78.9%(15/19)和50.0%(3/6),阴性预测值均为100%;共筛查出可疑性染色体异常孕妇96例,66例经介入性产前诊断羊水细胞核型分析,经统计学分析,无创基因性染色体检出率为100%,漏诊率为0,假阳性率为0.30%(14/4708),阳性预测值78.8%(52/66),阴性预测值100%。结论无创基因检测在临床工作中可以提升筛查能力,减少染色体异常儿的出生,减少不必要的有创性性产前诊断操作。 Objective:To explore the significance of noninvasive prenatal testing of fetal autosomal aneuploid and sex chromosomal aneuploidy.Methods:From January 2015 to December 2017,4709 pregnant women volunteered to take noninvasive prenatal testing.10ml venous blood was drawn from these pregnant women,plasma DNA was extracted.We get high risk of T21,T18,T13 and sex chromosomal aneuploidy by using high-throughput sequencing technique and compared with amniotic chromosomal karyotypes.Results:107 high risk pregnant women underwent noninvasive prenatal testing,77 cases of T21 high risk,23 cases of T18 high risk,7 cases of T13 high risk.Only 94 cases agreed and took amniocentesis for amniotic chromosomal karyotypes.With statistical analysis,the detection rates of T21,T18 and T13 were 100%,the missed diagnosis rates were 0,the false positive rates were respectively 0.04%(2/4708),0.08%(4/4708)and 0.06%(3/4708),the positive predictive values were respectively 97.1%(67/69),78.9%(15/19)and 50.0%(3/6),the negative predictive values were 100%.96 high risk of sex chromosomal aneuploidy by using high-throughput sequencing technique.Only 66 cases agreed and took amniocentesis for amniotic chromosomal karyotypes The detection rate of sex chromosomal aneuploidy was 100%,the missed diagnosis rate was 0,the false positive rate was 0.30%(14/4708),the positive predictive value was 78.8%(52/66),the negative predictive value was 100%.Conclusion:Noninvasive prenatal diagnosis,which can improve screening efficiency,has important clinical significance to prevent congenital defects in infants and reduce unnecessary invasive procedures.

关 键 词： 无创基因检测 胎儿非整倍体 性染色体 临床研究

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