摘要
目的通过对产前诊断中21三体综合征进行临床分析,了解孕龄、唐氏征筛查、家族遗传史及B超异常对21三体综合征发生的影响。方法收集我院2005年至今羊水穿刺产前诊断标本共3960例,其中21三体综合征43例,通过对43例孕妇从发病年龄、家族遗传史、唐氏征筛查及B超异常来综合分析21三体综合征的发生情况。结果 43例21三体综合征中:年龄≥34岁18例,占41.9%;唐筛阳性15例,占34.9%;遗传病史6例,占13.9%;B超异常4例,占9.3%。结论加强对有产前诊断指征孕妇进行必要的产前诊断,可减少21三体综合征患儿的出生;加强宣传,提高孕妇、家庭及社会的对羊水产前诊断的认识。
Objective：To understand the effect of menstrual age,screening of Down syndrome,family history of genetics diseases and B-mode ultrasonography Abnorm on the cases of trisomy 21 syndrome confirmed.Methods：We had collected 3960 cases of antenatal diagnosis by amniocentesis from 2005 to 2011 in our hospital and 43 cases of them had been confirmed as trisomy 21 syndrome.Then all the cases of trisomy 21 syndrome were aggregately investigated though menstrual age,screening of Down syndrome,family history of genetics diseases and B-mode ultrasonography Abnorm.Results：Eighteen pregnant women of 43 cases were more than 34 years,which was 41.9%.Fifteen cases,34.9%,were positive in screening of Down syndrome.Six cases,13.9%,had family history of genetics diseases.Four cases,9.3%,were found with abnormal signals by type-B-mode ultrasonography Abnorm.Conclusion：It could reduce the birth rate of trisomy 21 syndrome that the pregnant women with clinical indications followed antenatal diagnosis.Amniocentesis should be introduced to more pregnant women and families to improve the social consciousness on antenatal diagnosis.
出处
《中国优生与遗传杂志》
2012年第3期48-49,共2页
Chinese Journal of Birth Health & Heredity
关键词
产前诊断
21三体综合征
Antenatal diagnosis
Trisomy 21 syndrome
