无创产前基因检测在产前筛查中的应用价值

Application Value of Noninvasive Prenatal Genetic Testing in Prenatal Screening

目的探讨无创产前基因检测技术在产前筛查中的应用价值。方法选择2018年1月~2019年8月在我院自愿选择无创产前基因检测的孕妇5000名,采集外周血浆应用高通量测序进行胎儿游离DNA检测,高风险者行胎儿羊水染色体核型分析,并对5000名孕妇妊娠结局进行追踪随访。结果发现57名孕妇有异常情况,其中21-三体31名,假阳性2名;18-三体5名,假阳性3名;13-三体4名,假阳性3名;性染色体异常17名,假阳性7名。随访显示21-三体假阴性1名。结论无创产前基因检测技术用于胎儿染色体非整倍体尤其是21-三体的检测具有较高的准确性,但对于其他非整倍体检测的准确性还有待进一步提高。

Objective To explore the application value of noninvasive prenatal genetic testing technology in prenatal screening.Methods Choose 5000 pregnant women who voluntarily choose noninvasive prenatal genetic testing in our hospital from January 2018 to August 2019,collect peripheral plasma and use high-throughput sequencing to detect fetal free DNA,and perform karyotype analysis of the fetal amniotic fluid chromosomes in high risk individuals,and follow-up of 5000 pregnant women's pregnancy outcomes.Results 57 pregnant women were found to have abnormalities,including 21-trisomy 31,2 false positives;18-trisomy 5,3 false positives;13-trisomy 4,3 false positives;17 sex chromosome abnormalities,7 false positives.Follow-up showed 21-trisomy 1 false negative.Conclusion The noninvasive prenatal gene detection technology used in the detection of fetal chromosomal aneuploidy,especially 21-trisomy,has high accuracy,but the accuracy of other aneuploidy detection needs to be further improved.