9525例中孕期母血清学产前筛查效率评价分析  

The efficiency evaluation of the maternal serum prenatal screening in the second trimester

作　　者：张海荣[1] 刘庆波[1] 董弘[1] 詹晓华[1] 季春燕[1] 俞叶梅 朱海燕[1] 

机构地区：[1]中国人民解放军海军总医院妇产科优生优育中心实验室,北京100048

出　　处：《中国优生与遗传杂志》2014年第12期50-51,66,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析在严格质量控制的条件下,中孕期母血清学产前筛查效率及临床价值。方法通过规范的筛查前孕妇信息采集、实验中的质量控制以及筛查后高风险孕妇的召回与随访,回顾性分析2008年1月至2013年9月间进行中孕期血清二联筛查的9525例孕妇的筛查与诊断结果。结果 9525例孕妇中筛查高风险589例。其中21-三体综合征高风险478例(确诊11例),漏诊3例,检出率78.57%,假阴性率4.66%,阳性预测值2.42%。18-三体高风险24例(确诊2例,无漏诊),检出率100%。ONTD高风险111例(确诊3例),检出率100%。筛查阳性孕妇检出胎儿为其他染色体异常者5例。结论本研究通过筛查实验前、中、后各个环节严格规范的全程质量控制,获得了较好的目标疾病的检出率,说明了筛查工作多环节的质量控制、后续产前诊断服务以及随访等工作,对于全面、准确地评价和分析总体筛查效率与效益的重要性。Objective： To analyze the efficiency and the clinical value of the prenatal screening in the second trimester under the rigorous quality control. Methods： The data and the results of the maternal serum screening and the prenatal diagnosis of a total of 9525 pregnant women between January 2008 and September 2103 were retrospectively collected and analyzed. The cut-off value of Down syndrome, 18-trisomy and open neural tube defects （ONTD） is 1. 250, 1：100 and ≥2.5MOM respectively. Prenatal diagnoses by karyotyping or ultrasound detection were provided for the positive cases detected through prenatal screening. Results. Totally, 11 in 14 cases of Down syndrome were diagnosed and 3 cases were missed. The positive detect rate of Down syndrome was 78.57%, and the false positive rate was 4.66%. Both the detect rate of 18-trisomy and ONTD was 100%. There were 5 screening positive cases were detected with other chromosome abnormality. Conclusion： A comprehensive, strict quality control would be helpful to get better screening results.

关 键 词：产前筛查 产前诊断 质量控制 

分 类 号：R714.55[医药卫生—妇产科学]