Abstract：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-invasive prenatal screening technology,which has a high accuracy in the diagnosis of chromosome aneuploidy and is conducive to the detection of chromosome aneuploidy.It can provide important guidance for prenatal intervention of birth defects and has an important impact on promoting eugenics birth.
刘洋, 僧雪雁, 刘毅. 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[J]. 哈尔滨医药, 2023, 43(2): 22-24.
Liu Yang, Seng Xueyan, Liu Yi. Clinical Value of Free Fetal DNA in Peripheral Blood For the Diagnosis of Chromosome Aneuploidy. journal1, 2023, 43(2): 22-24.
2023, Vol. 43 
