孕中期10063例孕妇产前筛查结果回顾性分析  

Retrospective analysis of prenatal screening results of 10 063 mid-pregnancy women

作　　者：林晓娟[1] 孙庆梅[1] 李静[1] 郝胜菊[1] 吴菊[1] 姜岩[1] 

机构地区：[1]甘肃省妇幼保健院,甘肃兰州730050

出　　处：《中国妇幼健康研究》2013年第3期443-445,共3页Chinese Journal of Woman and Child Health Research

基　　金：甘肃卫生行业科研计划资助项目（GSWST2010-14）;甘肃省科技厅科技支撑资助项目（0708NKCAl04）

摘　　要：目的评估血清甲胎蛋白（AFP）、游离13人绒毛膜促性腺激素（Free β-HCG）在孕中期对胎儿出生缺陷诊断的意义。方法采用全自动时间分辨仪检测孕中期10063例孕妇血清中AFP、游离β-hCG的含量，并结合孕周、体重、年龄等因素，通过2T风险评估软件进行风险评估，如孕妇为高风险，进一步进行胎儿超声和染色体核型分析等检查。结果在10063例单胎孕妇中，筛查出21-三体高风险327例，筛查阳性率为3．25％，经羊水染色体核型分析确诊9例；18-三体高风险45例，筛查阳性率0．45％，经羊水染色体核型分析确诊3例；神经管缺陷高风险277例，筛查阳性率2．75％，经B超诊断确诊69例；其它染色体异常4例。结论利用孕妇孕中期无创性血清标记物AFP和β-hCG的筛查，结合产前诊断及胎儿孕中期超声检查对降低缺陷儿的出生率具有重要意义。Objective To evaluate the risk of birth defect diseases during mid-pregnancy by detecting alpha- fetoprotein （AFP） and free beta human chorionic gonadotropin （Free β-hCG） and make further diagnosis. Methods Automatic time-resolved instrument was used to detect AFP and Free β-hCG of 10 063 mid-pregnancy women. Combined with gestational week, weight, age and other factors, risk assessment was made with 2T risk assessment software. If pregnant women were in high risk, further fetal ultrasonography and karyotype analysis were done. Results Among 10 063 women with single fetus, 327 cases were screened with high risk of 21-trisomy, and the screening positive rate was 3.25%. Nine cases were confirmed by amniotic fluid karyotype analysis. There were 45 cases with high risk of 18-trisomy, with screening positive rate of 0.45%. Three cases were confirmed by amniotic fluid karyotype analysis. Totally 277 cases were in high risk of NTD, and the screening positive rate was 2.75%. Ultrasound diagnosis confirmed 69 cases. There were 4 cases with other chromosomal abnormalities. Conclusion It is of great importance to reduce the rate of birth defects by non-invasive screening AFP and β-hCG in the second trimester combined with prenatal diagnosis and fetal uhrasonography.

关 键 词：唐氏综合征 18-三体综合征 神经管缺陷 产前筛查 

分 类 号：R714.5[医药卫生—妇产科学] R715[医药卫生—临床医学]