胎儿游离DNA高通量基因测序技术在产前诊断中的临床价值

Clinical value of fetal free DNA high- throughput genome sequencing in prenatal diagnosis

目的:探讨高通量基因测序技术在无创产前诊断中的价值。方法:回顾性分析进行胎儿游离DNA高通量基因测序技术的1064例孕妇,对其中495例唐氏筛查高危者进行研究,比较无创DNA检测和核型分析的结果。结果:495例唐氏筛查高危者高通量基因测序技术显示染色体异常者12例,核型分析10例异常,7例21-三体阳性,3例18-三体阳性。高通量基因测序技术诊断胎儿染色体异常的敏感度为100.00%(10/10),特异性为97.58%(483/495),假阴性率为0.00%(0/495),假阳性率为0.40%(2/495)。结论:高通量测序技术诊断胎儿染色体非整倍体异常具有高效、准确、无创、简单、易行的优点。

Objective： To explore the value of high- throughput genome sequencing in noninvasive prenatal diagnosis. Methods：A total of 1 064 pregnant women were detected by fetal free DNA high- throughput genome sequencing,then the results were analyzed retrospectively,495 high risk pregnant women of Down＇s syndrome were researched to compare the results of noninvasive DNA detection and karyotyping. Results： Among 495 high risk pregnant women of Down＇s syndrome,12 pregnant women were found with chromosomal abnormalities, 10 pregnant women were found with abnormal results of karyotyping,7 pregnant women were found with positive trisomy 21 syndrome and 3 pregnant women were found with trisomy 18 syndrome.The sensitivity,specificity,false negative rate and false positive rate of high- throughput genome sequencing for diagnosing fetal chromosomal abnormalities were 100. 00%（ 10 /10）,97. 58%（ 483 /495）,0. 00%（ 0 /495） and 0. 40%（ 2 /495）,respectively. Conclusion：High- throughput genome sequencing has the advantages of high- efficiency,accuracy,noninvasion,simplicity and easy operation for diagnosing fetal chromosomal abnormalities.