孕妇中期唐氏筛查联合外周血游离胎儿DNA检测的研究价值

The value of down's screening combined with peripheral blood free fetal DNA detection in the second trimester of pregnancy

目的:探讨孕中期女性唐氏筛查联合外周血游离胎儿DNA检测的临床诊断价值。方法:收治孕中期孕妇1 426例,先行唐氏综合征筛查,对阳性患者再纳入外周血游离胎儿DNA进行染色体非整倍体检测。结果:1 426例孕妇筛查出高危孕妇38例,其中检出10例染色体数目异常,结构异常4例,羊水细胞培养染色体核型分析检出2例21三体综合征及2例18三体综合征,经检测,与细胞遗传学的核型分析相符。结论:孕妇中期唐氏筛查联合外周血游离胎儿DNA检测能够早期诊断高风险孕妇,预防和减少唐氏儿及其他缺陷儿的出生,操作简单、安全、有效,有利于提高国民素质。

Objective:To investigate the clinical diagnostic value of down's screening combined with peripheral blood free fetal DNA detection in the second trimester of pregnancy.Methods:A total of1426pregnant women in the second trimester of pregnancy were enrolled in the screening of down's syndrome,and then the positive patients were included in the peripheral blood free fetal DNA.Results:Among those1426cases,38pregnant women with high-risk,in which10cases were detected abnormal chromosome number,and4cases with structural abnormality,2cases of trisomy21and2cases of trisomy18were detected by karyotype analysis of cultured amniotic fluid cells,and karyotype analysis was consistent with cytogenetic analysis.Conclusion:Down's screening combined with peripheral blood free fetal DNA detection in the second trimester of pregnancy can early diagnosis high risk of pregnant women.It can prevent and reduce down's syndrome and other birth defects in children.The operation is simple,safe and effective,and it also can improve the national quality.