BACs-on-Beads技术对无创DNA阳性结果的验证分析

Validation analysis of BACs-on-Beads technology in noninvasive DNA positive results

目的评价BACs-on-Beads(BoBs)技术对无创DNA产前检测(noninvasive prenatal testing,NIPT)阳性结果的诊断价值。方法选取2017年1月至2019年12月NIPT阳性结果的666例孕妇行BoBs检测和染色体核型分析,观察NIPT结果的准确性。结果666例NIPT阳性结果,经BoBs和染色体核型分析验证,共发现染色体异常394例,NIPT的准确率为59.16%,其中21三体227例,18三体65例,13三体6例,性染色体异常93例,其他染色体异常3例。21三体检测的准确率最高,为83.46%,18三体的检测准确率为66.33%,13三体及性染色体异常检测准确率分别为12.77%、40.61%。结论NIPT存在一定比例的假阳性,对于NIPT阳性病例建议进行进一步产前诊断确诊,BoBs技术快速,简便,准确,是染色体非整倍异常确诊的有效手段。

Objective:To evaluate the diagnostic value of BACs-on-Beads(BoBs)technology in positive results of noninvasive prenatal testing(NIPT).Methods:A total of 666 pregnant women who were positive for NIPT from January 2017 to December 2019 were given BoBs assay and chromosomal karyotyping.The accuracy of NIPT results was observed.Results 394 cases were found with chromosomal abnormalities,and the accuracy of NIPT detection was 59.16%.Among all of the disorders,we found 227 cases of trisomy 21,65 cases of trisomy 18,6 case of trisomy 13,93 cases of sex chromosome abnormalities and 3 cases of other chromosome abnormalities,the accuracy rate was 83.46%,66.33%,12.77%,40.61%,15%,respectively.Conclusion Due to false positive results,NIPT positive cases need further prenatal diagnosis.BoBs is a fast,simple,and efficient method for early prenatal diagnosis of NIPT positive cases.