202例NIPT高风险孕妇羊水细胞染色体核型分析

Amniotic fluid chromosome analysis for 202 noninvasive prenatal testing high risks pregnant

目的验证无创DNA产前检测(NIPT)技术提示非整倍染色体异常的准确性。方法对厦门市妇幼保健院202例NIPT提示高风险孕妇羊水细胞染色体核型进行比对分析。结果 202例NIPT高风险孕妇羊水染色体核型异常共125例,其中21-三体阳性预测值最高(91.25%),其次是18-三体(57.89%)和性染色体异常(55.35%),阳性预测值最低的是13-三体(25%)。结论 NIPT技术对21-三体阳性预测值很高,具有一定的临床应用价值,可作为传统产前筛查技术的辅助手段。

Objective：To explore the accuracy of noninvasive prenatal testing（NIPT）technology in prenatal screening. Methods：Amniotic fluid chromosomes of 202 NIPT high risk pregnant women in center of prenatal diagnosis of maternal and child health care hospital of Xiamen were analyzed. Results：Analysis of amniotic fluid chromosome karyotypes showed there are 125 abnormalities in 202 cases of NIPT high risk pregnant women. The highest positive predictive value of NIPT was for trisomy 21（91.25%）,Secondary is trisomy 18（57.89%）,Then sex chromosome abnormalities（55.35%）,the lowest positive detection rate is trisomy13（25%）. Conclusion：NIPT technology has a high detection rate of trisomy 21,which can be used as an auxiliary means of traditional prenatal screening technology.