孕中期血清学筛查在产前诊断及妊娠结局预测中的应用  

Serum marker screening during the second trimester for prenatal diagnosis and predicting pregnancy outcome

作　　者：杨岚[1] 赵丽[1] 江静颖[1] 刘俊[1] 陶荷花 王俊[1] 吴金保[1] 

机构地区：[1]南京医科大学附属无锡妇幼保健院产前诊断中心,江苏无锡214002

出　　处：《南方医科大学学报》2015年第7期1059-1062,1072,共5页Journal of Southern Medical University

基　　金：江苏省妇幼保健重点资助项目(F201315);无锡市科技局指令性项目(CSEYIN1109);无锡市医管中心面上项目(YGZXM1510);南京医科大学面上项目(2013NJMU200)

摘　　要：目的：评价中孕期产前血清学筛查在产前诊断及妊娠结局预测中的应用价值。方法应用时间分辨荧光免疫法（DELFIA）对2011-2013年在我院产检的25520例中孕期单胎妊娠孕妇进行free-β-HCG、μE3、AFP三联血清学指标检测，对筛查高风险者进行羊水穿刺产前诊断，对开放性神经管缺陷（NTD）高风险者进行多普勒超声检查确诊，并随访其妊娠结局。结果25520例产前筛查孕妇中，共筛出高风险1254例（4.91%），818例行介入性产前诊断者染色体结果异常共47例（5.75%）。随访结果显示筛查高风险人群不良妊娠结局发生率为1.91%（24/1254），显著高于筛查低风险人群的0.1%（25/24256），差异有统计学意义（P〈0.01）。产前诊断结果显示高龄组对21三体征的检出率（15%）显著高于35岁以下组（1.65%），差异有统计学意义（P〈0.01）；另对189例因产前筛查单项指标中位数MoM值异常行产前诊断的病例分析，染色体异常率为3.17%（6/189）。结论中孕期血清学筛查，除可筛查胎儿染色体及解剖结构异常，还可用于不良妊娠结局的指导，此外对高龄孕妇出生缺陷的预防也有较高的应用价值。产前筛查单指标MoM值异常对胎儿染色体异常有一定的提示价值。Objective To explore the clinical value of screening the serum markers during the second trimester of pregnancy in preventing congenital birth defect and predicting the pregnancy outcome. Methods Between November, 2011 and October, 2013, a total of 25 520 pregnant women （15-20＋6 gestational weeks） underwent a screening test of triple serum markers including free beta-human chorionic gonadotrophin （free β-hCG）, alpha-fetoprotein （AFP）, and unconjugated estriol （μE3） during the second semester of pregnancy. The women identified by the screening test as having high risks were referred to invasive prenatal diagnosis by amniocentesis, or to color Doppler ultrasound examination for suspected patent neural tube defect （NTD）, and their pregnancy outcomes were followed up. Results High-risk pregnancies were identified by the screening test in 4.91%（1254/25520） of the total cohort. Of the 818 patients receiving invasive prenatal diagnosis, the abnormal rate was 5.75%（47/818）. The high-risk pregnancies identified by the screening test was associated with a significantly higher rate of abnormal outcomes compared with the low-risk pregnancies （1.91%vs 0.1%, P〈0.01）. Of the 210 high-risk cases of NTD, a definite diagnosis was established in 34 cases. We also found that pregnancies at an advanced age （〉35 years） was associated with increased risks for trisomy 21 compared with those at younger ages （15% vs 1.65%, P〈0.01）. The detection rate of abnormal karyotypes in pregnancies with an abnormal MoM value of a single marker was 3.17% （6/189）. Conclusion Screening tests of serum markers during the second trimester of pregnancy can be helpful to identify fetal chromosomal and anatomical anomalies, predict unfavorable pregnancy outcomes, and prevent birth defects in pregnancies at an advanced age. The MoM value of a single marker in the second trimester can be indicative of potential chromosomal abnormalities.

关 键 词：产前筛查 21三体综合征 18三体综合征 神经管缺陷 妊娠结局 MoM值 

分 类 号：R714.5[医药卫生—妇产科学]