46576例孕妇的产前筛查及产前诊断

目的评价妊娠中期孕妇血清(AFP、β-hCG和uE3)三联法筛查在唐氏综合征、18三体综合征和神经管缺陷的临床应用价值,评价羊水细胞染色体分析对诊断胎儿染色体异常的临床应用价值。方法对46 576例孕14-21周的孕妇采用时间分辨免疫荧光法(DELFLA)进行血清AFP、Free-βHCG和uE3浓度的检测,结合孕周、体重、年龄等因素,通过风险评估软件进行风险评估。将筛查结果与B超、羊水染色体分析、新生儿检查结果对照。结果 46 576例孕妇中筛查出唐氏综合征高危妊娠2356例,筛查阳性率为5.06%,经羊水染色体核型分析确诊12例唐氏综合征患儿;18-三体高风险者190例,筛查阳性率为0.41%,经羊水染色体分析确诊5例;神经管缺陷高危者259例,筛查阳性率为0.56%,其中确诊为神经管缺陷胎儿61例。结论产前筛查和产前诊断可减少缺陷儿的出生,具有明显的社会效益和经济效益,是落实优生优育政策非常有效的技术手段。

Retrospective analysis of prenatal screening on 46 576 cases

Objective To evaluate the clinic value of the triple marker prenatal screening system for Down′s syndrome（DS）、trisomy 18 and neural tube defects（NTD）,to evaluate the clinic value of the chromosome analysis of amniotic fluid cell for chromosome abnormity of fetus.Methods DELFLA triple marker reagents are used to test the concentrations of AFP、β-HCG and uE3 in the serum of 46 576 middle period pregnant women whose were pregnant for 14-21 weeks.With factors of children weeks,avoirdupois,age and so on,we evaluated the risk with risk evaluation software.Then compared the results whih type-B ultrasonic,amniocentesis,and results of the newborn＇s examination.Results Among the high risk cases of 46 576,5.06% cases indicate DS and 0.41% cases suggest 18-Ⅲ.By amniocentesis,12 cases were diagnosed Down,s syndrome;5 cases were diagnosed 18-Ⅲ;259 0.56% examples with neural tube defect high risk were checked.61 fetuses with neural tube defect were diagnosed.Conclusion Prenatal screening and prenatal diagnosis decreased the rate of birth defects.They have distinct economic and social benefit,they are very effective technical means to carry out our country＇s prepotency policy.