1178例筛查高风险孕妇的产前诊断

目的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23 288例孕14~21w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 23288例孕妇中筛查出唐氏综合征高危妊娠1178例,筛查阳性率为5.06%（1178/23 288）,经羊水染色体核型分析确诊6例唐氏综合征患儿;18-三体高风险者95例,筛查阳性率为0.41%（95/23 288）,经羊水染色体分析确诊2例;神经管缺陷高危者130例,筛查阳性率为0.56%（130/23 288）,其中确诊为神经管缺陷胎儿30例。结论产前筛查和产前诊断可减少缺陷儿的出生,具有明显的经济效益和社会效益,是落实优生优育政策非常有效的技术手段。

Prenatal diagnosis on 1178 high risk cases

Objective：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 23 288 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 whit type-B ultrasonic,amniocentesis,and results of the newborn＇s examination. Results：Among the high risk cases of 23 288,5.06%（1178/23 288）cases indicate DS and 0.41%（95/23 288）cases suggest 18-Ⅲ. By amniocentesis,6 cases were diagnosed Down s syndrome;2 cases were diagnosed 18-Ⅲ;130 0.56%（130/23 288）examples with neural tube defect high risk were checked. 30 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.