32097例孕中期血清学筛查胎儿先天异常结果分析

Analysis of middle trimester serum screening for 32097 pregnant women

目的评价孕中期血清学筛查方法在胎儿染色体异常和神经管缺陷检测中的应用价值。方法对32 097例孕周在15-20+6w、预产年龄小于35周岁的孕妇进行孕中期血清学筛查。筛查指标为甲胎蛋白(h AFP)、游离人绒毛膜促性腺激素β亚基(Free-β-h CG)和游离雌三醇(u E3),结合孕妇的年龄、体重、孕周等病史,运用Life Cycle软件进行分析计算出风险值。对21三体、18三体高风险孕妇建议羊水或脐血穿刺染色体核型分析,对NTD高风险孕妇建议超声产前诊断。对所有筛查孕妇妊娠结局进行随访。结果筛查出高风险孕妇1616例,高风险总阳性率为5.03%,21-三体高风险率4.47%,18-三体高风险率0.14%;NTD高风险率0.49%;羊水穿刺844例,确诊胎儿染色体异常51例,染色体异常率6.02%,其中21-三体10例,18-三体4例,性染色体异常2例,嵌合体8例,平衡易位2例,其它染色体异常25例;NTD高风险超声诊断神经管畸形5例。随访发现21-三体漏诊3例,神经管畸形漏诊4例。21-三体检出率为76.92%。结论孕中期三联血清学筛查对染色体异常有较高的检出率,有效减少缺陷儿出生,对提高出生人口质量具有重要意义。

Objective：To evaluate the efficacy of middle trimester serum screening for aneuploid and neural tube defect（NTD）. Methods：totally 32 097 pregnant women aged less than 35 year at the expected date of childbirth accepted the screening during the 15 th to 20 gestational weeks. Triple tests protocol including a-fetal protein,β-h CG,and u E3. The life Cycle software was used for calculating the risk value,combined with age,weight,gestational weeks of the pregnant women. Women with a high risk of aneuploid accepted the invasive diagnosis,and diagnostic ultrasound were performed for women with a high risk of NTD. Pregnant outcome were follow up observed. Results：altogether 1616 high risk results having been detected,the screening positive rate was 5.03%,the positive rates of 21-trisomy,18-trisomy and NTD were 4.47%,0.14% and 0.49% respectively. And 844 women accepted with amniocenteses,51 chromosome anomaly were confirmed（with the positive rate of 6.02%）. Ten cases of 21-trisomy,4 cases of 18-trisomy,2 cases of sexual chromosome anomaly,8 cases of chimera,and 2 cases of balanced traslocation were confirmed. Other 25 cases were found carried with other chromosome anomaly. Five cases NTD were confirmed by ultrasounds. There 3 cases of 2-trisomy and 4 cases of NTD were miss diagnosed detected by follow up. The detection rate of 21-trisomy was 76.92%. conclusions：second trimester triple-serum screening was satisfied for detecting fetal chromosome anomaly,which is important to improve the birth population quality.