唐氏征筛查高危与胎儿羊水染色体异常的关系探讨  

Study on the relationship between the maternal serum positive triple test screening and chromosome abnormalities of the fetus

作　　者：董媛[1] 王一鹏[1] 李维[1] 于璐[1] 陈巧媛[1] 吕巍[1] DONG Yuan, WANG Yi-peng, LI Wei, YU Lu, CHEN Qiao-yuan, LV Wei(Department of Clinical Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026 Chin)

机构地区：[1]首都医科大学附属北京妇产医院检验科遗传室,北京100026

出　　处：《中国优生与遗传杂志》2018年第3期29-31,共3页Chinese Journal of Birth Health & Heredity

基　　金：首都医科大学基础-临床合作基金(15JL76);首都医科大学附属北京妇产医院中青年学科骨干培养专项(fcyy201534)

摘　　要：目的探讨唐氏筛查高危与胎儿羊水染色体异常之间的关系。方法将2014年1月~2017年10月母血清学唐氏筛查高危并到首都医科大学附属北京妇产医院遗传室行羊水染色体核型分析的孕妇作为研究对象,对检出的异常胎儿羊水染色体核型进行分析。结果胎儿羊水染色体异常106例中:68例为胎儿染色体数目异常(64.2%),包括常染色体异常59例,性染色体异常9例;29例为胎儿染色体结构异常(27.4%);9例为染色体多态及其它类型异常(8.4%)。孕妇血清学唐氏筛查高危能提示胎儿为21-三体或18-三体综合征(包括嵌合体)仅56例,占所有唐氏筛查高危病例的52.8%。结论母血清学唐筛高危不仅可预测胎儿羊水染色体数目异常,很大程度上还提示胎儿可能存在染色体结构异常或其它异常。Objective：To evaluate the relationship between the maternal serum positive triple test screening and chromosome abnormalities of the fetus. Methods：During January 2014 to October 2017,the pregnant women with maternal serum positive triple test screenings and amniotic fluid karyotype analyses with chromosomal abnormalities in the Center for Prenatal Diagnosis,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,were selected as our research objects. Results：106 cases of chromosomal abnormalities with maternal serum positive triple test screenings were detected,including 68 cases with numerical chromosome abnormality（64.2%）,mainly with 59 cases of autosomal abnormalities,9 cases of sex chromosome abnormalities;29 cases（27.4%）of structural chromosome abnormalities;9 cases of chromosome polymorphism and other abnormalities（8.4%）. The maternal serum positive triple test screening can predict only 56 cases（52.8%）of the fetuses for trisomy 21 syndrome and trisomy 18 syndrome. Conclusion：The maternal serum triple test screening not only can predict the numerical chromosome abnormalities,but also for structural and other chromosome abnormalities.

关 键 词：唐氏征筛查高危 羊水 染色体异常 

分 类 号：R596.1[医药卫生—内科学]