孕妇血浆中胎儿游离DNA测序在无创性产前检测中的应用

The Application of Free Fetal DNA in Maternal Plasma in Noninvasive Prenatal Checkup

目的:探讨孕妇血浆胎儿游离DNA高通量测序(DNA测序)在无创产前检测中的应用价值。方法:对7561例唐氏筛查高风险孕妇行DNA测序,并行羊水细胞染色体核型分析确诊。结果:在7561例孕妇中,DNA测序异常40例,羊水细胞核型结果异常37例,DNA测序误诊3例。其中DNA测序检测到21-三体高风险25例,羊水细胞核型确诊24例;18-三体均为12例。DNA测序对于21-三体检测的敏感性和特异性分别为100.00%和99.98%,18-三体检测的敏感性和特异性均为100.00%。DNA测序的假阳性率为0.04%,假阴性率为0。结论:孕妇血浆胎儿游离DNA高通量测序是检测21和18-三体一种敏感性高和特异性强的新方法,在无创产前检测中有重要的实用价值。

Objective： To explore the application value of free fetal DNA in maternal plasma in noninvasive prenatal checkup. Methods：7561 pregnant women at high risk for fetal trisomy 21 who underwent multiplexed massively sequencing of DNA molecules in maternal plasma and definitive the amniocentesis diagnosis by full karyotyping. Results： In 7561 pregnant women,there were 40 abnormities of DNA sequencing,37 abnormities of the amniocentesis diagnosis by full karyotyping,there were 3 cases errors for DNA sequencing. DNA sequencing shown that there were 25 pregnancies with fetal trisomy 21 ,and full karyotyping diagnosis that there were 24 pregnancies with fetal trisomy 21,12 pregnancies with fetal trisomy 18, they are the same. For trisomy 21, DNA sequencing were detected at 100% sensitivity and 99.98% specificity, For trisomy 18, DNA sequencing were detected at 100%sensitivity and specificity. DNA sequencing shown there were 1 pregnancy with fetal 45XO, but full karyotyping shown the fetus is normal. The false positive of DNA sequencing is 0. 013% ,the false negative is 0. Conclusions：Multiplexed massively sequencing free fetal DNA in high risk maternal plasma is a new method of high sensitivity and specificity for noninvasive detection of fetal trisomy 21 and 18 and may be widely used in noninvasive prenatal checkup.