无创DNA产前筛查1200例结果分析

Analysis of 1200 cases of noninvasive DNA prenatal screening

目的探讨无创DNA产前筛查的方法,分析1200例产妇的检查结果。方法选取我院收诊进行无创DNA产前筛查孕产妇1200例,均为单胎孕产妇,根据孕产妇年龄、血清学筛查的结果进行分组,高危年龄组(n=582)、高危血清学筛查组(n=277)、其他原因组(n=341),对其临床资料进行回顾性分析,并且将高危产妇无创DNA产检结果与羊水穿刺结果进行对比。结果高危年龄组高风险率为2.06%,高危血清学筛查组高风险率为1.81%,其他原因组高风险率为1.47%,高危年龄组孕产妇的高风险率最高,其他原因组孕产妇的高风险率最低,但3组间高风险率比较,差异无统计学意义(P>0.05)。无创DNA产前筛查的高风险孕产妇22例,经过羊水穿刺后发现,13-三体综合征、18-三体综合征、21-三体综合征的准确率为86.36%,检出率为100.00%。结论无创DNA产前筛查是一种方便、无创、准确的检查方式,作为初筛手段具有较高的临床价值。

Objective To explore the methods of prenatal screening for non-invasive DNA and to analyze the results of 1200 cases of maternal examination. Methods One thousand and two hundred cases of singleton pregnant women for noninvasive DNA prenatal screening in our hospital were selected. And they were divided into high risk age group（n=582）, high risk serological screening group（n=277）, and other cause group（n=341） according to the results of maternal age and serological screening. The clinical data were retrospectively analyzed, and the results of noninvasive DNA examination of high-risk women were compared with those of amniocentesis. Results The high risk rate of high risk age group was 2.06%, the high risk rate of high risk serological screening group was 1.81%, the high risk rate of other causes group was 1.47%, the high risk rate of high risk age group was the highest, and the high risk rate of other causes group was the lowest, but the difference of high risk rate among the 3 groups was not significant（P〉0.05）. After amniocentesis, 22 high risk pregnant women with non invasive DNA prenatal screening were found that the accuracy rate of 13-trisomy syndrome, 18-trisomy syndrome and 21-trisomy syndrome was 86.36%, and the detection rate was 100.00%. Conclusion Noninvasive DNA prenatal screening is a convenient, non-invasive and accurate examination method. It has high clinical value as a screening method.