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

doi:10.3969/j.issn.1001-8131.2023.02.008

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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.

Key words： Chromosome aneuploidy Free fetal DNA in peripheral blood Interventional puncture Diagnostic efficiency Consistency

Received: 14 May 2022

PACS:

R714.55

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	Liu Yang
	Seng Xueyan
	Liu Yi

Cite this article:

Liu Yang,Seng Xueyan,Liu Yi. Clinical Value of Free Fetal DNA in Peripheral Blood For the Diagnosis of Chromosome Aneuploidy[J]. journal1, 2023, 43(2): 22-24.

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http://www.hrbyybjb.org.cn/EN/10.3969/j.issn.1001-8131.2023.02.008 OR http://www.hrbyybjb.org.cn/EN/Y2023/V43/I2/22

[1] 吴佩芳,张卫华,唐萍,等.嘉兴地区无创产前检测性染色体非整倍体病例的妊娠选择及妊娠结局分析[J].中国优生与遗传杂志,2020,28(7):820-822.
[2] 王晓华,白瑞芳,周燕,等.使用基于联合探针锚定聚合技术的高通量测序平台的低覆盖度全基因组测序检测自然流产组织中染色体异常的分析[J].中华妇产科杂志,2019,54(12):808-814.
[3] 陈雯,任新玲,胡娟,等.高通量测序遗传学筛查对性染色体非整倍体患者的应用价值[J].中国妇幼保健,2019,34(11):2549-2553.
[4] 罗印,辛星,卿莹,等.高龄孕妇外周血胎儿游离DNA产前筛查胎儿常见非整倍体的临床应用研究[J].中国优生与遗传杂志,2019,27(7):834-836.
[5] 陈秀菊,蔡满满,张丽荣.孕早期静脉导管A波倒置联合NT筛查胎儿染色体非整倍体价值[J].中国计划生育学杂志,2020,28(11):1894-1897.
[6] 蓝小芳,谢妙妙,舒静,等.孕中期孕妇血清甲胎蛋白联合游离人绒毛膜促性腺激素β亚单位对胎儿染色体非整倍体的筛查效能分析[J].中国性科学,2020,29(9):86-90.
[7] 周月云,张庆娥,董晶晶,等.880例不同产前诊断指征孕妇羊水穿刺胎儿染色体核型的对比分析[J].中国现代医学杂志,2020,30(10):33-37.
[8] 马娜,贾政军,唐汪澜,等.三例胎儿游离DNA检测提示16-三体高风险孕妇的产前细胞和分子遗传学分析[J].中华围产医学杂志,2021,24(8):608-613.
[9] 田丹,吴美梅,黄烁丹,等.外周血中游离胎儿DNA检测在唐氏筛查临界风险孕妇中产前筛查的应用价值[J].中国医师杂志,2021,23(3):444-447.
[10] 张燕,王亿,缑灵山,等.孕妇外周血胎儿游离DNA高通量测序在产前非整倍体核型遗传筛查中的应用[J].现代检验医学杂志,2020,35(2):6-8,45.
[11] 郑芸芸,李佳,万陕宁,等.高通量测序技术检测早期自然流产组织染色体非整倍体及拷贝数变异的临床意义[J].山西医科大学学报,2021,52(2):226-230.
[12] 彭建美,李瑞,于娇,等.颈项透明层厚度超声联合无创DNA对孕妇胎儿染色体非整倍体异常诊断效能的影响[J].现代生物医学进展,2021,21(11):2129-2132.
[13] 董媛,张萌,王一鹏,等.从351例胎儿染色体异常的分布探讨高龄孕妇产前筛查及诊断的流程[J].中华医学遗传学杂志,2019,36(6):538-542.
[14] 盛娟. 彩色多普勒超声联合无创DNA检测在诊断高危产妇胎儿染色体异常中的应用价值分析[J].中国妇幼保健,2019,34(4):860-863.