10484例孕中期唐氏综合征筛查结果分析

Screening analysis of Down syndromes in 10484 cases on middle period pregnancy

目的通过对孕妇行孕中期血清生化指标产前筛查,发现孕期胎儿染色体病及神经管发育异常,降低出生缺陷率。方法采用时间分辨免疫荧光法(DELFLA)Eu和Sm双标记试剂盒,测定孕妇空腹静脉血清AFP和Freeβ-HCG浓度,结合孕妇年龄、体重、是否双胎、有无糖尿病史及吸烟史等因素,采用随机软件计算唐氏综合征(DS)和神经管缺陷(NTD)的风险率。在10484例孕中期筛查孕妇中,高风险1146例,筛查阳性率10.93%,DS高风险孕妇1059例。18-三体高风险34例,NTD高风险53例。共做产前诊断506例,包括羊水细胞培养和脐带血细胞培养。诊断率为47.29%。对2007年6月30日以前筛查高风险孕妇进行了产后随访。结果共发现唐氏综合征9例,其中漏诊2例,本室唐氏综合征发病率为0.86‰(9/10484)。其他染色体异常7例,染色体异常总发病率为1.53‰(16/10484)。胎儿畸形、死胎、等其他胎儿发育异常38例。结论孕中期血清筛查对于降低唐氏综合征非常必要,但只有将多种检查和临床表现结合起来分析,才能真正提高产前筛查的效果,降低出生缺陷率。

Objective： Screening middle period samples of serum of pregnant women to diagnose chromosome diseases and nervous tube defects of fetus so that birth defects rate can be decreased. Methods and Results： DELFLA Eu and Sm double marker reagents are used to test the concentrations of AFP and 13 - HCG in the serum of middle period pregnant women. The morbidities of Down syndromes （DS） and nervous tube defect （NTD） are calculated based on the testing results with supported software, taken such factors as the age, weight, number of fetus, diabetes and smoking experiences of the pregnant women into consideration. The calculated results show that 1146 cases are of high risks in 10484 test samples, with a positive rate of 10. 93%. Among the high risk cases, 1059 cases indicate DS, 34 cases suggest 18 - Ⅲ, and 53 cases are NTD. Prenatal diagnosis is carried out for 506 cases （47. 29% ）, including amniocentesis and umbilical cell culture. After - birth visit on the high - risk pregnant women screened before the date of 2007 - 6 - 30 indicated that 9 births suffered DS （including 2 fail -to -diagnosed cases）. The morbidity of DS is 0. 86% （9/10484）. 7 cases suffered other chromosome abnormity. The total chromosome abnormity incidence is 1.53% （16/10484）. 38 cases are found with fetus malformation, death and dysplasia. Conclusion： The results in this paper indicate that screening of middle period serum of pregnant women is necessary in lowering the risk of DS incidence. However, better results can only be obtained by combining multiple test methods and clinical behaviors in order to decrease the rate of birth defects.