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目的探讨孕妇血浆中胎儿游离mRNA含量变化作为唐氏综合征产前筛查指标的可行性。方法选择2007年5月至2008年8月在上海交通大学医学院附属国际和平妇幼保健院就诊的26例孕中期(15～26周)妇女作为研究对象,其中13例为单胎行常规产科检查的孕妇(A组),9例为21-三体综合征胎儿的孕妇(B组),4例为其他染色体异常胎儿的孕妇(C组),提取其外周血血浆中游离mRNA,应用QF-PCR技术检测胎盘来源的HPL,β-HCG,TFPI2,DSCR4,LOC90625基因,以此确定母体血浆中的胎儿游离mRNA含量,并同时检测代表母体与胎儿总游离mRNA的18sRNA基因作为内参照。结果除TFPI2基因外,其他4种基因,在21-三体综合征胎儿孕妇组和其他染色体异常胎儿孕妇组血浆中胎儿游离mRNA含量明显高于正常胎儿孕妇组(P<0.01)。结论胎儿游离mRNA可能成为产前筛查唐氏综合征的有效指标。
Objective To investigate the changes of fetal free mRNA in pregnant women as a prenatal screening index for Down Syndrome. Methods From May 2007 to August 2008, 26 pregnant women (15-26 weeks) from the International Peace Maternity and Child Care Hospital Affiliated to Shanghai Jiaotong University School of Medicine were selected as the study subjects. Among them, 13 were single births routine obstetric examination (Group A), 9 pregnant women (group B) with fetus with trisomy 21 and 4 pregnant women with other chromosome abnormal fetuses (group C) PCR technique was used to detect placental derived HPL, β-HCG, TFPI2, DSCR4 and LOC90625 genes in order to determine the content of free fetal mRNA in the maternal plasma. At the same time, 18sRNA gene, which represents the total free fetal mRNA, was detected as an internal reference. Results In addition to TFPI2 gene, the other four genes in fetal trisomy 21 and other fetal abnormalities in fetal plasma fetal fetal free mRNA content was significantly higher than the normal fetal group (P <0.01). Conclusion Fetal free mRNA may be an effective indicator of prenatal screening for Down’s syndrome.