13736例孕中期唐氏综合征筛查结果分析

目的检测孕中期妇女血清中甲胎蛋白（AFP）、绒毛膜促性腺激素（HCG）和游离雌三醇（uE3）的含量，经试剂配套软件进行发病风险评价，探讨其在唐氏综合征筛查中的应用价值。方法应用酶联免疫法定量检测孕中期孕妇的血清标志物甲胎蛋白（AFPl、绒毛膜促性腺激素（HCG）和游离雌三醇（uE3），结合孕妇的年龄、孕周、体重等因素，利用配套软件进行对唐氏综合征的风险值进行评估。对筛查结果为高风险的孕妇进行遗传咨询，在知情同意情况下进行羊水细胞染色体检查，并对筛查的孕妇追踪到产后一个月。结果13736例孕15～20＋6周的妇女进行上述3项血清标记物检测，筛查出各类风险人群1017例，其中DS高风险728例、ONTD高风险138例、18三体高风险151例，在阳性孕妇中发现唐氏综合征5例、18三体4例、脑积水4例、左侧脑室扩张1例，低风险中发现唐氏综合征2例。结论孕中期应用母血三联生化指标进行产前筛查，对降低唐氏儿和神经管缺陷儿的出生率有着重要意义。

Screening results analysis on Down syndrome in 13736 case of middle period pregnancy

Objective To determine serum contents of maternal serum markers including alpha fetoprotein （AFP）, chorionic gonadotrophin （HCG） and unconjugated estriol （uE3） in mid-pregnancy women, and explore its clinical value in screening for Down syndrome （DS）.Methods ELISA was used to test the concentrations of AFP, HCG and uE3 in maternal serum. The morbidities of DS were calculated base on the results with supported software combining with factors of the maternal age, gestation age and weight. Hereditary consultation was provided for the high-risk pregnant women, amniocentesis was done under their agreements. Each case was followed till one month after the fetus birth.Results 1017 pregnancies among 13736 women of 15 to 20 plus 6 weeks pregnancy were screen positive, 728 pregnancies were detected at high risk for DS, 138 pregnancies were detected as high risk for open neural tube defects （ONTD）, 151 pregnancies were detected as high risk for trisomy 18. In the screening positive pregnancies, we found 5 cases ofDS, 4 cases of trisomy 18, 4 cases of hydrocephalus, 1 case of dilatation of ventricle, 2 cases of DS were found in the screening negative pregnancies.Conclusion The results in this paper indicate that triple screen test for middle period serum of pregnancy women is important for decreasing the birth rate of DS and neural tube defects.