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目的评价无创产前DNA在产前诊断中的临床应用价值。方法应用高通量测序对1600份孕妇外周血浆进行胎儿游离DNA检测分析。结果 1600份样本中,唐筛高危组、唐筛临界组,高龄组和其他组之间异常检出率无统计学意义,P=0.738;发现常染色体非整倍体阳性16例(1%),其中2例为假阳性(18三体和13三体各一例),1例为10号染色体拷贝数增加(父系来源),其余1598例阴性结果出生后随访,未发现21三体、18三体和13三体患儿,2例存在多发畸形,其中1例出生后3小时死亡。无创基因检测的21-三体、18-三体的敏感度分别为100%(8/8)、87.5%(7/8),特异度为99.87%(1598/1600)。结论无创基因检测技术用于胎儿常染色体非整倍体的检测有较高的准确性,且有望用于胎儿染色体微缺失/微重复的检测,提高了产前筛查与诊断的效价比,降低了漏筛率。但仍不能代替传统的血清筛查和有创的产前诊断技术。
Objective To evaluate the clinical value of noninvasive prenatal DNA in prenatal diagnosis. Methods Fetal free DNA was detected in 1600 pregnant women by high-throughput sequencing. Results Among the 1,600 samples, there was no significant difference in the abnormal detection rate between the high risk group of Tang Sie and Tang Sieve Critical Group, the elderly group and other groups (P = 0.738), 16 (1%) were positive for autosomal aneuploidy, , Two of them were false-positive (one case of trisomy 18 and one case of trisomy 13), one case had an increase of copy number on chromosome 10 (father’s origin), and the remaining 1598 cases were followed up after birth. No trisomy 21 and 18- There were multiple deformities in 2 cases and 13 cases of trisomy in children, of which 1 died 3 hours after birth. The sensitivity of non-invasive gene detection of 21-trisomy and 18-trisomy was 100% (8/8), 87.5% (7/8) and 99.87% (1598/1600) respectively. Conclusion Noninvasive gene detection technology for fetal autosomal aneuploidy detection with high accuracy, and is expected to be used for detection of fetal chromosomal microdeletion / micro-duplication to improve the prenatal screening and diagnosis of the cost-effective, Reduce the leakage rate. But it still can not replace the traditional serum screening and invasive prenatal diagnosis.