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目的 分析产前筛查母血游离胎儿DNA在21-三体、18-三体胎儿产前筛查中的灵敏度、特异度和准确度,为寻找简便、快捷、准确的产前非整倍体异常胎儿筛查方法的选择提供参考,以期提升优生率.方法 选择2014年2月-2016年1月在我院行产前健康检查中274例孕中期非整倍体异常高危妊娠妇女作为研究对象.所有孕妇均取外周血行胎儿基因测序,并与人正常基因组进行对比,检出非整倍体异常胎儿;所有孕妇均行羊膜腔穿刺,取羊水行核酸DNA检测.随访所有未行妊娠终止的孕妇出生胎儿21-三体、18-三体异常情况,综合羊水核酸DNA检测结果及出生后胎儿基因检测结果为金标准,计算孕妇外周血游离胎儿DNA检测21三体、18三体的灵敏度、特异度、准确度.结果 274例12-三体、18-三体异常高危孕妇经羊膜腔穿刺羊水遗传学检测出21-三体阳性14例,18=三体阳性7例.母血游离DNA检测出2卜三体阳性14例,18-三体阳性6例.母血游离胎儿DNA检测费整倍体异常的灵敏度、特异度、准确度分别为:98.42％、76.19％96.72％. 274例羊膜腔穿刺羊水遗传学检测孕妇中,12例行二次穿刺取羊水,1例出现羊膜腔感染而流产,1例出现出血流产.母血游离胎儿DNA检测未对母儿产生不良反应.结论 母血游离胎儿DNA产前检测可有效筛查出21-三体、18-三体非整倍体异常胎儿,安全,准确度高,及早采取措施终止妊娠,避免DNA缺陷儿的出生,对促进优生有较高的临床价值.“,”Objective:To analyze the sensitivity,specificity and accuracy of prenatal screening of maternal fetal free fetal DNA in 21-trisomy,18-trisomy fetus prenatal screening,and to find simple,rapid and accurate prenatal The selection of abscisploid abnormal fetal screening methods provides a reference to improve the rate of eugenics.Methods:A total of 274 pregnant women with aneuploidy abnormality were enrolled in our hospital from February 2014 to January 2016 in our hospital for prenatal health examination.All pregnant women were taken from the peripheral blood line fetal gene sequencing,and compared with the normal human genome,the detection of aneuploid abnormal fetal;all pregnant women were amniocentesis,take the amniotic fluid nucleic acid DNA detection.Follow-up of all pregnant women without pregnancy termination of the birth of the fetus 21-trisomy,18-trisomy abnormalities,comprehensive amniotic fluid nucleic acid DNA test results and postnatal fetal gene test results for the gold standard,the calculation of pregnant women peripheral blood free fetal DNA detection 21 trisomy,18 three body sensitivity,specificity,accuracy.Results:274 cases of 12-trisomy,18-trisomics and high-risk pregnant women were diagnosed by amniotic membrane amniotic fluid genetics 21-Maternal blood free DNA detection of 21-trisomy positive in 14 cases,18-trisomy in 6 cases.The sensitivity,specificity and accuracy of ectopic chromosome abnormality were 98.42％ and 76.19％ 96.72％,respectively.274 cases of amniotic membrane puncture amniotic fluid genetic test pregnant women,12 cases of secondary puncture to take amniotic fluid,1 case of amniotic cavity infection and abortion,1 case of bleeding abortion.Maternal blood free fetal DNA detection did not produce adverse reactions to the mother and child.Conclusion:The prenatal detection of fetal fetus DNA can effectively screen out 21-trisomy,18-tricuspid aneuploidy fetus,safe and accurate,take early measures to terminate the pregnancy,avoid the birth of DNA defects,To promote eugenics have a higher clinical value.