95例21三体综合征产前诊断结果分析  

Clinical analysis on 95 fetuses with trisomy 21 syndrome confirmed by prenatal diagnosis

作　　者：张闻 钱霞 梅瑾 

机构地区：[1]杭州市妇产科医院(杭州市妇幼保健院),杭州310008

出　　处：《中国优生与遗传杂志》2016年第10期65-66,55,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对95例21三体综合征产前诊断结果进行分析,探讨21三体综合征相关高危因素。方法 2011年1月至2015年12月我院产前诊断中心共确诊95例21三体胎儿染色体核型,收集病历,综合分析其发病年龄、唐氏征筛查、高通量基因测序产前筛查及产前诊断B超检查结果。结果 95例确诊病例中21三体标准型87例,易位型5例,嵌合型3例。95例21三体综合征中高龄34例,占35.79%;产前筛查高风险47例,占49.47%;产前筛查低风险9例,占9.47%;因超声异常直接产前诊断3例,占3.16%。结论除了对高龄、产前筛查高风险、超声异常等高危孕妇进行产前诊断,还应建议产前筛查低风险孕妇联合高通量基因测序产前筛查及超声进一步筛查,尽早发现21三体综合征,减少出生缺陷发生。Objective：To study the clinical risk factors of 95 fetuses with trisomy 21 syndrome. Methods：The clinical data of 95 fetuses with trisomy 21 syndrome confirmed by prenatal diagnosis during Jan 2011 to Dec 2015 in Hangzhou Women′s Hospital were selected. Then all the cases of trisomy 21 syndrome were aggregately investigated though menstrual age,screening of Down syndrome,non-invasive prenatal genetic test,and B-mode ultrasonography Abnorm. Results：Among 95 confirmed cases,there were 87 cases which chromosomal karyotype of Down syndrome were standard karyotype,5 cases mosaicism karyotype,3 cases translocation karyotype. The clinical risk factors of all cases included advanced maternal age（34cases,35.79%）,high risk of Down syndrome screening（47cases,49.47%）,low risk of Down syndrome screening（9cases,9.47%）. Conclusions：The clinical indications of advanced maternal age,high risk of Down syndrome screening,effective ultrasonic screening especial in ultrasound markers are important for Down syndrome screening. The combination of prenatal ultrasonography and non-invasive prenatal genetic test can effectively improve detectable rate of Down syndrome screening,which should be introduced to more pregnant women,especially the pregnant women with low risk of Down syndrome screening.

关 键 词：21三体综合征 产前诊断 高龄 高通量基因测序 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]