早孕期联合筛查唐氏综合征的效能评估  

To evaluate the effectiveness of first-trimester combined screening for Down syndrome

作　　者：王宏[1] 蓝紫萍[1] 周方明[1] 杨瑶[1] 

机构地区：[1]南方医科大学附属深圳市妇幼保健院检验科,深圳518028

出　　处：《中国优生与遗传杂志》2013年第6期53-55,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的评估早孕期联合筛查唐氏综合征(Down syndrome,DS)的效果。方法用时间分辨荧光免疫技术测定2341例11+0-13+6周孕妇d的血清游离β-人绒毛膜促性腺激素(freeβ-HCG)和妊娠相关蛋白A(PAPP-A)的浓度,按英国胎儿基金会(FMF)的要求测量胎儿颈后透明带(nuchal translucency,NT)的厚度,用lifecycle3.0计算DS风险值,风险值≥1/250的孕妇建议行产前诊断;随访所有孕妇的妊娠结局。结果检出高风险孕妇175人,筛查阳性率7.48%(175/2341),产前诊断率为60.57%(106/175);检出DS 6例、18三体和13三体各1例。DS假阴性1例核型为嵌合型,DS的检出率为85.7%(6/7),阳性预测值3.43%(6/175)。妊娠结局随访率及不良结局发生率分别为:高风险孕妇94.01%(157/167)和13.14%(23/175),低风险孕妇89.15%(1931/2166)和3.7%(72/1931)。高龄孕妇的比例16.02%(375//2341),筛查阳性率高龄组20%(75/375),低龄组5.09%(100/1966),6例DS中有5例是高龄孕妇占83.3%。结论早孕期联合筛查唐氏综合征检出率高,是一种高效可行的DS筛查方案。Obiective：To evalute the effectiveness of First-trimester combined screening for Down syndrome.Methods：Time resolved fluoresence immunoassay was used to measure the levels of serum free β-HCG and PAPP-A of 2341 pregnant women between 11＋0 and 13＋6 weeks of gestation,according to the measurement requirements of Fetal Medicine Foundation（FMF） to measure the fetal,s nuchal translucency（NT）,and the risk of DS were calculated using lifecycle 3.0,Fetal karyotyping was advised when the risk was 1∶ 250 or above.All pregnancy and fetal outcome were follow up.Results：The high-risk pregnant women were 175 cases,the positive rate was 7.48%,the rate of prenatal diagnosis was 60.57%（106/175）,Chromosomal abnormalities include 6 cases of DS,1 case of 18 trisomy and one case of 13 trisomy.1 case of false-negative of DS（not born）,the pregnant women was 40 years old,the fetal karyotype was Mosaic type;the detection rate for DS was 85.7%（6/7）,the positive predictive value of DS was 3.43%（6/175）.②The rate of following up fetal outcome and the adverse outcome was 94.01%（157/167）and 13.14%（23/175）in high-risk pregnant women,89.15%（1931/2166）and 3.7%（72/1931）in the low risk pregnant women,respectively.③The percent of the advanced maternal age women were 16.02%（375//2341）,the positive rate of screening in the advanced maternal age women was 20%（75/375）and 5.09%（100/1966）in maternal age below 35 years old,respectively.5 cases were advanced maternal age women among 6 cases of DS,the percentage was 83.3%.Conclusion：The first-trimester combined screening was highly efficient and practicable screening pattern for DS.

关 键 词：早孕期联合筛查 唐氏综合征 高风险 妊娠结局随访 

分 类 号：R714.55[医药卫生—妇产科学]