早孕期孕妇外周血的胎儿游离DNA检测分析

Analysis of Fetal Free DNA in Peripheral Blood of Pregnant Women during Early Pregnancy

目的:分析早孕期孕妇外周血的胎儿游离DNA状况,并对其诊断价值分析。方法:选取2016年3月~2017年3月某院进行产前筛查的100例高危孕妇进行研究,其中9~13周孕龄的50例孕妇定为早孕组,15~20周孕龄的50例孕妇定为中孕组,对两组孕妇的外周血中游离胎儿的DNA进行检测。结果:在早孕组50例孕妇外周血游离胎儿DNA检测结果显示,共检出1例染色体数目异常,结果为21-三体综合征,与羊水染色体核型检测分析结果完全相同;中孕组50例游离胎儿DNA检测结果显示,1例孕妇染色体数目表现异常,1例染色体结构异常,均与羊水染色体核型检测分析结果相同。对孕妇外周血中的SRY基因(雄性的性别决定基因)浓度进行测量,结果显示中孕组浓度(149.25±59.17)copies/mL远高于早孕组的(26.42±35.31)copies/mL,数据差异存在统计学意义(P<0.05)。结论:孕妇外周血胎儿游离DNA对于早孕期染色体非整倍体具有准确的、高精度的检测率,能够作为产前筛查起到检测胎儿疾病的方法,值得临床推广使用。

Objective:To analyze the fetal free DNA in peripheral blood of pregnant women during early pregnancy.Methods:100 cases of high-risk pregnant women treated in a hospital from March 2016 to March2017 were selected and studied.50 pregnant women at the age of 9 to 13 weeks were classified as the early pregnancy group and 50 pregnant women at the age of 15 to 20 weeks were classified as the middle pregnancy group.The free fetal DNA was detected in peripheral blood of two groups of pregnant women.Results:In 50 pregnant women in early pregnancy group,the results of free fetal DNA test showed that one case had abnormal chromosome number and the result was 21-trisomy syndrome,which was exactly the same as that of amniotic fluid chromosome karyotype analysis.The results of DNA analysis of 50 free fetuses in the middle pregnancy group showed that one pregnant woman had abnormal chromosome number and one had abnormal chromosome structure,which were the same as that of amniotic fluid chromosome karyotype analysis.Chromosomal structural abnormality,and the karyotype of amniotic fluid detection results of the analysis of the same.The concentration of SRY genes(sex determining genes in males in the peripheral blood of pregnant women was measured.The results showed that the concentration of copias in middle pregnancy group[(149.25±59.17)copies/mL]was much higher than that in early pregnancy group[(26.42±35.31)copies/mL],and the difference between the two groups was statistically significant(P<0.05).Conclusion:Fetal free DNA in maternal peripheral blood has accurate and high precision detection rate for chromosomal aneuploidy in early pregnancy.It can be used as a method for prenatal screening to detect fetal diseases and it is worth popularizing in clinic.