792例血清学高危行无创产前基因检测研究  

Study on noninvasive prenatal genetic testing of 792 cases of high-risk in serological screening

作　　者：雷亚琴[1] 周林[1] 赖允丽[1] 徐钰琪 谢波波[1] 陈少科[1] 

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁530003

出　　处：《中国优生与遗传杂志》2014年第11期23-24,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨无创产前基因检测联合血清学产前筛查在产前诊断胎儿染色体非整倍体中的应用价值。方法选择2013年5月至2013年12月血清学筛查高危单胎孕妇792例,采用无创产前基因检测的方法评估胎儿染色体非整倍体的患病风险率,对患病风险率提示高危的孕妇进行核型分析以确诊结果。结果检出高风险14例,占调查资料总数1.77%,其中21-三体6例,18-三体3例,性染色体5例,染色体核型分析确认6例21-三体,3例18-三体,1例47,XXY。结论无创产前基因检测的方法能早期、快速、准确、无创地检测21-三体、18-三体,可避免很多不必要的介入性有创检查。无创产前基因检测联合血清学筛查是目前产前筛查最为实用和有效的方法之一。Objective：To discuss the value of the combination of noninvasive prenatal genetic testing and serological screening in prenatal diagnosis of fetal aneuploidy detection. Method：792 cases were enrolled from May 2013 to December 2013,and were high-risk in serological screening. Applying noninvasive prenatal genetic testing to assess the risk rate of fetal chromosomal aneuploidy,positive results were confirmed by karyotype. Result：14 cases of fetuses were aneuploidy in noninvasive prenatal genetic testing,account for 1.77% of the total number of survey data,including 6 cases of trisomy 21,3 cases of trisomy 18,which were confirmed by karyotype and 5 cases of sex chromosomal aneuploidies,but only 1 case（47,XXY）was confirmed by karyotype. Conclusion：Noninvasive prenatal genetic testing can be performed early,rapidly,accurately,noninvasively to detect trisomy 21,trisomy 18. which can avoid many issues from invasive detection. The combination of noninvasive prenatal genetic testing and serological screening is one of the most practical and effective method for prenatal screening.

关 键 词：无创产前基因检测 血清学筛查 染色体非整倍体 

分 类 号：R714.55[医药卫生—妇产科学]