血清学产前筛查中期与早中孕期整合筛查胎儿染色体非整倍体异常的效果分析

Comparative analysis of the intermediate and early pregnancy integrated screening for fetal chromosomal abnormalities in prenatal screening

目的探讨血清学产前筛查中期与早中孕期整合筛查胎儿染色体非整倍体异常的效果分析,提供高效率胎儿染色体非整倍体异常的筛查方案。方法选择筛查的231176例孕妇,其中中孕筛查201113例,早中孕整合筛查30063例;中孕筛查予采用DELFIA测定孕妇血清Free-HCGβ,甲胎蛋白(AFP),早中孕整合筛查分别予早孕采用时间分辨免疫荧光法(DELFIA)测定孕妇血清绒毛膜促性腺激素(Free-βh CG),妊娠相关蛋白A(PAPP-A),B超测定胎儿颈部透明带厚度(NT)值,中孕采用DELFIA测定孕妇血清Free-HCGβ,甲胎蛋白(AFP),然后运用软件分析唐氏综合征风险;高风险的孕妇进行羊水穿刺和脐静脉穿刺诊断,出生结局通过电话、电子网络跟踪随访。结果早中孕整合筛查比中孕筛查阳性率降低2.93%细胞学诊断率提升40.58%、检出异常率增加2.1%,侵入性穿刺减少55.42%,低风险的漏诊率0.10‰。结论早中孕整合筛查要比中孕筛查优越,高风险的阳性率低,细胞学诊断率、检出异常率明显高于中孕筛查,低风险的漏诊率与中孕接近,但是能有效减少孕妇侵入性穿刺数,减轻了孕妇从产前筛查到诊断的恐惧心理,也有效减少了缺陷儿的发生。

Objective：To investigate the prenatal serum screening mid and early pregnancy integrated screening for fetal chromosomal non effect analysis of aneuploid abnormalities and provide efficient fetal chromosomal abnormal aneuploidy screening programs. Methods：231 176 cases of pregnant women choose screening,of which 201 113 cases of pregnancy in early pregnancy screening,30 063 cases of pregnancy in integrated screening;screening for determination of serum Free-HCG by DELFIA beta,alpha fetoprotein（AFP）,early pregnancy screening in early pregnancy were treated by integration of time resolved fluorescence immunoassay（DELFIA）determination of gonadotropin in pregnant women serum chorionic（Free-beta h CG）,pregnancy associated plasma protein A（PAPP-A）,B ultrasound measurement of fetal nuchal translucency（NT）value,in the determination of pregnant maternal serum Free-HCG beta by DELFIA,alpha fetoprotein（AFP）,and then use the software to analyze the risk of Down syndrome;high risk pregnant women were amniocentesis and umbilical vein puncture diagnosis,followup birth outcomes by telephone,electronic network. Results：In the early second trimester integrated screening than in pregnant women with positive screening rate reduce 2.93% cytologic diagnosis rate enhance 40.58%,the detection rate of abnormal increase of 2.1%,invasive puncture reduced 55.42%,low risk of missed diagnosis rate of 0.10 per thousand. Conclusion：Early second trimester integrated screening is superior than in the second trimester screening,the positive rate of high risk low,cytological diagnosis rate,detected abnormal rate was significantly higher than that in the second trimester screening,low risk of missed diagnosis rate and pregnancy is close to,but can effectively reduce the pregnant women to invade the number of puncture,reduce the pregnant women in prenatal screening to diagnosis of fear,also effectively reduced the occurrence of defects.