孕妇血浆中胎儿游离DNA检测在唐氏综合征产前诊断中的应用价值分析  

Application Value Analysis of Fetal Free DNA Detection in Maternal Plasma in Prenatal Diagnosis of Down Syndrome

作　　者：周春芳[1] Zhou Chunfang(Department of Clinical Laboratory,Liyang Maternal and Child Health Care Hospital,Changzhou 213300,Jiangsu Province,China)

机构地区：[1]溧阳市妇幼保健院检验科,江苏常州213300

出　　处：《中国社区医师》2024年第36期74-76,共3页Chinese Community Doctors

摘　　要：目的:分析孕妇血浆中胎儿游离DNA检测在唐氏综合征(DS)产前诊断中的应用价值。方法:选取2022年2月—2024年2月于溧阳市妇幼保健院进行产前检查的孕妇80例进行研究,根据检查结果分为参照组(单胎正常妊娠,n=48)和研究组(怀有DS胎儿,n=32)。孕妇均进行外周血血浆胎儿游离DNA和mRNA检测,采用荧光定量聚合酶链式反应检测DYS14基因水平及胎盘生乳素基因、绒毛膜促性腺激素β基因、组织因子途径抑制物-2(TFPI-2)、21-三体综合征危象区基因4(DSCR4)基因mRNA水平,以临床综合诊断结果为“金标准”,分析DYS14基因及相关基因mRNA对DS的诊断效能。结果:研究组DYS14基因水平高于参照组(P<0.001)。研究组胎盘生乳素基因mRNA水平低于参照组,绒毛膜促性腺激素β基因、TFPI-2及DSCR4 mRNA水平高于参照组(P<0.05)。绒毛膜促性腺激素β基因、TFPI-2、DSCR4 mRNA对DS的诊断效能均较高,其中TFPI-2mRNA的诊断效能最高。结论:孕妇血浆中胎儿游离DNA检测在DS产前诊断中的应用价值较高,可作为临床诊断DS的辅助检查指标。Objective:To analyze the application value of fetal free DNA detection in maternal plasma in prenatal diagnosis of Down syndrome(DS).Methods:Eighty pregnant women who underwent prenatal examinations in Liyang Maternal and Child Health Care Hospital from February 2022 to February 2024 were selected for the study.According to the examination results,preg-nant women were divided into the reference group(singleton normal pregnancy,n=48)and the study group(pregnant with DS fetus,n=32).All pregnant women were tested for fetal free DNA and mRNA in peripheral blood plasma.The levels of DYS14 gene and placental lactogene,chorionic gonadotropinβgene,tissue factor pathway inhibitor-2(TFPI-2)and 21-trisomy syndrome critical region gene 4(DSCR4)gene mRNA levels were detected using fluorescence quantitative polymerase chain reaction.The clinical comprehensive diagnosis results were used as the"gold standard"to analyze the diagnostic efficacy of DYS14 gene and related gene mRNA for DS.Results:The level of DYS14 gene in the study group was higher than that in the reference group(P<0.001).The placental lactogen gene mRNA levels in the study group were lower than those in the reference group,and the chorionic go-nadotropinβgene,TFPI-2 and DSCR4 mRNA levels in the study group were higher than those in the reference group(P<0.05).Chorionic gonadotropinβgene,TFPI-2 and DSCR4 mRNA had high diagnostic efficacy for DS,and TFPI-2 mRNA had the high-est diagnostic efficacy.Conclusion:The detection of fetal free DNA in maternal plasma has high application value in the prenatal diagnosis of DS,and can be used as an auxiliary index for clinical diagnosis of DS.

关 键 词：胎儿 游离DNA 唐氏综合征 产前检查 

分 类 号：R714.53[医药卫生—妇产科学]