高通量基因测序在孕期产前筛查中的应用

Application of High-flux sequencing analysis in prenatal screening

目的通过比较高通量基因测序方法与传统血清学产前筛查两种方法进行产前筛查所获得的假阳性率和假阴性率进行比较,从而肯定高通量基因测序方法运用于孕期产前筛查的临床价值。方法将本院在2002年～2014年间用传统血清学产前筛查方法筛查156 077人次所得相关数据与本院在2014年9月～2014年12月间高通量基因测序技术方法筛查2914人次所得相关数据进行对比。结果传统血清学产前筛查方法的21三体综合征假阳性率为653/万、假阴性率为0.6/万、检出率86.7%;高通量基因测序方法的21三体综合征的假阳性率为14/万、假阴性率为0.0/万、检出率100%。两种方法用于21三体综合征产前筛查具有显著差异。结论高通量基因测序技术应用于孕期产前筛查具有比传统血清学筛查方法更高的灵敏度和特异性,其临床应用价值更显著。

Objective：According to compare the false negative rate and false positive rate which get from the high-flux sequencing analysis method and traditional serological prenatal screening method,to confirm the value of applying the high-flux sequencing analysis method to prenatal diagnosis. Methods：Compare the two figures which from our hospital records,one figure is used traditional serological prenatal screening method to screen 156 077 women from the year 2002 to 2014,the other figure is used the high-flux sequencing analysis method to screen 2914 women from September to December of the year 2014. Results：The false positive rate of 21 trisomy which screened by the traditional serological prenatal screening is 653/10000、the false negative is 0.6/10000,the detective rate is 86.7%;The false positive rate of 21 trisomy which screened by the high-flux sequencing analysis method is 14/10000,the false negative is 0,the detective rate is 100%. There is significant difference by applying these two prenatal screening methods for 21 trisomy. Conclusions：The high-flux sequencing analysis method is more sensitive and specificity than the traditional serological prenatal screening,the clinical application value is more remarkable.