3320例孕中期妇女唐氏综合征产前筛查结果分析

目的探讨孕中期妇女(14~20周)血清标志物甲胎蛋白(AFP)、游离绒毛膜促性腺激素(f-βhCG)及游离雌三醇(uE3)在胎儿唐氏综合征(DS)、18三体综合征和神经管畸形(NTD)筛查中的应用。方法采用化学发光技术检测孕妇血清中AFP、f-βhCG及uE3的浓度,结合孕妇年龄、孕周,利用上海腾臣唐氏软件计算胎儿患DS、18三体综合征和NTD的风险概率。结果对3 320例孕妇筛查结果进行分析,DS高危孕妇155例,阳性率4.67%;18三体综合征高危孕妇27例,阳性率0.81%;NTD高危孕妇57例,阳性率1.72%。经羊水穿刺确诊DS25例,经B超确诊NTD 9例。结论产前筛查对于严重先天性缺陷儿的宫内诊断具有重要的临床价值,对孕妇血清中AFP、f-βhCG及uE3标志物检测可有效地筛查出DS高危孕妇,能显著降低需要进行创伤性产前诊断的孕妇比例,降低唐氏儿出生率。

The result analysis of prenatal screening for Down syndrome in 3320 mid-pregnancy women

Objective To investigate the application of prenatal screening for Down syndrome（DS）,trisomy 18 syndrome and neural tube deformity（NTD） by detecting serum AFP,free β-hCG（f-βhCG） and free estriol in pregnant women（14-20 weeks）.Methods Serum AFP,f-βhCG and free estriol concentrations in pregnant women（14-20 weeks） were dectected based on the principal of chemiluminescence.Results were analysed by a computer software from Shanghai Tcsoft company for the risk of pregnant women of fetal Down syndrome,trisomy 13 syndrome and neural tube deformity combining with maternal age and gestational age.Results Among the 3 320 pregnant women,155 cases（4.67%） were at high risk for DS and 25 cases were diagnosed by amniocentesis;27 cases（0.81%） were at high risk for trisomy 18 syndrome;57 cases（1.72%） were found at high risk of prenatal NTD and 9 cases were diagnosed by ultrasonic inspection.Conclusion Prenatal screening is a effective means of prediction severe congenital deformity,which can reduce the birth rate of DS and the incidence rate of invasive antenatal examination.