外周血中游离胎儿DNA检测用于诊断染色体非整倍体的临床价值分析  

Clinical Value of Free Fetal DNA in Peripheral Blood For the Diagnosis of Chromosome Aneuploidy

作　　者：刘洋 僧雪雁[1] 刘毅[1] Liu Yang;Seng Xueyan;Liu Yi(Department of reproductive genetics,Zhengzhou maternal and Child Health Hospital,Zhengzhou450000,Henan,China)

机构地区：[1]郑州市妇幼保健院生殖遗传科,河南郑州450000

出　　处：《哈尔滨医药》2023年第2期22-24,共3页Harbin Medical Journal

摘　　要：目的分析外周血中游离胎儿DNA(cff-DNA)检测用于诊断染色体非整倍体的临床价值。方法选择进行外周血中cff-DNA检测的4525例孕妇。4525例孕妇均进行外周血中cff-DNA检测,针对低风险孕妇进行跟踪随访至新生儿出生后3个月时,针对高风险孕妇进行穿刺取样,分析染色体核型,并进行诊断。分析外周血中cff-DNA检测结果及介入性产前诊断染色体非整倍体结果,计算外周血中cff-DNA诊断染色体非整倍体敏感度、特异度及准确率,计算外周血中cff-DNA诊断染色体非整倍体与介入性产前诊断及产后随访结果的一致性。结果4525例进行外周血中cff-DNA检测的孕妇中出现染色体非整倍体的60例,其中性染色体异常4例,13-三体异常5例,18-三体异常11例,21-三体异常40例;外周血中cff-DNA检出的60例染色体非整倍体孕妇均进行羊水穿刺分析检测,证实染色体非整倍体异常58例;对外周血中cff-DNA检测无染色体异常的孕妇进行跟踪随访至新生儿出生后3个月时,未发现染色体异常患儿;以介入性产前诊断及产后随访结果作为金标准,外周血中cff-DNA诊断敏感度为100.00%(58/58),特异度为99.96%(4465/4467),准确率为99.96%(4523/4525);外周血中cff-DNA诊断染色体非整倍体与介入性产前诊断及产后随访结果的一致性极好(Kappa=0.983,P=0.000)。结论外周血中cff-DNA属于无创性产前筛查技术,用于诊断染色体非整倍体准确率较高,有利于检出染色体非整倍体,可为出生缺陷产前干预提供重要指导,对促进优生具有重要影响。Objective To analyze the clinical value of free fetal DNA(cffDNA)in peripheral blood for the diagnosis of chromosome aneuploidy.Methods 4525 pregnant women who were tested cff-DNA were selected.All 4525 pregnant women were tested for cff-DNA in peripheral blood.The low-risk pregnant women were followed up to 3 months after the birth of their newborns.,and the high-risk pregnant women were subjected to puncture sampling,for chromosome karyotype analysis and diagnosis.The detection results of cff-DNA in peripheral blood and the results of interventional prenatal diagnosis of chromosomal aneuploidy were analyzed,the sensitivity specificity and accuracy of cff-DNA in peripheral blood for the diagnosis of chromosomal aneuploidy were calculated,and the consistency between CFF DNA in peripheral blood for the diagnosis of chromosomal aneuploidy and interventional prenatal diagnosis was calculated.Results 60 cases of chromosome aneuploidy were found among 4525 pregnant women tested by cff-DNA in peripheral blood,including 4 cases of sex chromosome abnormality,5 cases of 13-trisomy abnormality,11 cases of 18-trisomy abnormality and 40 cases of 21-trisomy abnormality;60 pregnant women with chromosomal aneuploidy detected by cff-DNA in peripheral blood were detected by amniotic fluid puncture analysis,and 58 cases of chromosomal aneuploidy were confirmed;The pregnant women without chromosome abnormality detected by cff-DNA in peripheral blood were followed up until 3 months after the birth of their newborn,and no children with chromosomal abnormalities were found;Taking the results of interventional prenatal diagnosis as the gold standard,the diagnostic sensitivity of cff-DNA in the peripheral blood was 100.00%(58/58),the specificity was 99.96%(4465/4467),and the accuracy was 99.96%(4523/4525);The results of cff-DNA diagnosis of chromosomal aneuploidy in peripheral blood and interventional prenatal diagnosis have excellent consistency(Kappa value=0.983,P value=0.000).Conclusion The cff-DNA in peripheral blood belongs to non-

关 键 词：染色体非整倍体 外周血中游离胎儿DNA 介入性穿刺 诊断效能 一致性 

分 类 号：R714.55[医药卫生—妇产科学]