唐氏综合征高危孕妇血浆游离胎儿DNA的检测

目的探讨实时荧光定量PCR(RQ-PCR)检测孕妇血浆游离胎儿DNA;在筛查唐氏综合征高危孕妇中的应用。方法采用RQ-PCR检测22例唐氏综合征高危孕妇及20例低危孕妇血浆中GA;PDH及SRY水平,2-△△Ct法分析两组间的差异。结果 22例孕男胎均检出SRY基因,20例孕女胎中出现2例假阳性,高危组游离胎儿DNA;水平明显高于低危组(P=0.006,<0.05),比值为2.79。结论孕妇血浆游离胎儿DNA;的定量检测在唐氏综合征筛查中有重要价值。

Detection of cell-free fetal DNA in maternal plasma of the women with pregnancy,who have high-risk of carrying a Down's fetus in Down's syndrome screening.

Objective： To investigate the value of Realtime PCR（RQ-PCR） for detection of fetal DNA in maternal plasma to screen the high-risk women in Down＇s syndrome screening.Methods： We seclected 42 cases of second trimester pregnant women,22 cases have high-risk of carring a Down＇s fetus and 20 cases normal.Using RQ-PCR to detect SRY and GAPDH genes in maternal plasma,the varince between the two groups was analysizd by 2-△△Ct method.Results： SRY was detected in all 22 women with male fetus,but SRY was detected in 2 cases of 20 women with femal fetus.The amount of cell-free fetal DNA was significantly higher in high-risk pregnant women than normal（P=0.006,0.05）,the ratio was 2.79.Conclusion： The quantitative analysis of cell-free fetal DNA in maternal plasma is of great value in the Down＇s syndrome screening.