泰安地区18593例产前筛查与产前诊断结果分析

Analysis of antenatal screening and antenatal diagnosis of 18 593 cases in Tai'an

目的应用产前筛查、产前诊断技术干预出生缺陷。方法应用时间分辨荧光免疫法检测泰安地区孕中期15893例孕妇外周血血清AFP、游离βhCG及游离雌三醇水平,利用软件进行风险分析。21-三体风险切割值为1∶350,18-三体风险切割值为1∶350,AFP的中位数倍数(M0M)≥2.5时判断为神经管畸形高风险。高风险患者行羊水穿刺染色体分析及B超检查进行产前诊断。结果 18 593筛查病例中高风险1070例,其中21-三体高风险825例,高危率4.44%,确诊9例;18三体高风险78例,高危率0.42%,确诊2例;NTD高风险167例,高危率0.9%,无确诊病例。结论产前筛查、产前诊断是预防出生缺陷的有效手段。

Objective： Intervention of birth defects with prenatal screening. Method： The level of AFP, F -hCG and uE3 was detected in more than 16000 Pregnancy pregnant women of 14 -20 W. The prenatal diagnosis was to be executed in pregnant woman who was in high - risk with prenatal screening. Result： 1070 fetus with high risk of screening were detected in 18 593 fetus. 9 fetus with abnormal karyotype in 825 （4. 44% ） fetus with high risk of screening of 21 - trisome were determined. 2 in 78 （0.42） fetus of 18 -trisome were determined. None were determined in 167 （0. 9% ） fetus of NTD. Conclution： Prenatal diagnosis is an effective means for the prevention of birth defects.