21-三体综合征产前染色体检查指征分析  

Analysis on indications of prenatal chromosomal examination for trisomy 21 syndrome

作　　者：袁红[1] 任景慧[2] 朱琳[2] 肖伟伟[3] 林秀华[3] 曾君[3] 戴勇[3] 朱鹏[4] 

机构地区：[1]深圳市人民医院妇产科暨南大学第二临床医学院,广东深圳521020 [2]深圳市人民医院产前诊断中心,广东深圳521020 [3]深圳市人民医院临床医学研究中心,广东深圳521020 [4]深圳市坪山新区人民医院中心实验室,广东深圳521020

出　　处：《中国妇幼保健》2016年第3期539-541,共3页Maternal and Child Health Care of China

基　　金：广东省深圳市科技创新委员会项目(JCYJ20140415114652629);广东省科技计划项目(2013B060400011)

摘　　要：目的分析产前染色体检查指征对21-三体综合征胎儿的诊断价值。方法回顾性分析该院已确诊的91例21-三体综合征胎儿染色体的检查指征,评估这些指征对21-三体综合征胎儿的诊断价值。结果 91例21-三体综合征胎儿中:唐氏筛查异常65例(其中高风险40例,占43.96%;低风险单一指标异常18例,占19.78%;低风险多重指标异常7例,占7.69%),占71.43%;超声异常49例(结构畸形伴软指标异常27例,占29.67%;单纯结构畸形19例,占20.88%;单纯超声软指标异常3例,占3.30%),占53.85%;孕妇高龄(>35岁)16例,占17.58%;异常生育史5例,占5.49%。结论重视产前染色体检查指征,尤其是孕妇高龄、异常婚育史、唐氏筛查和超声异常等染色体检查指征是预测胎儿染色体异常的有效指标,结合无创产前基因检测或染色体核型分析,对预防21-三体综合征胎儿的出生具有重要临床应用价值。Objective To analyze the value of indications of prenatal chromosomal examination in diagnosis of trisomy 21 syndrome a- mong fetuses. Methods The indications of prenatal chromosomal examination for trisomy 21 syndrome in the hospital were analyzed retro- spectively among 91 fetuses, the value of these indications for diagnosis of trisomy 21 syndrome was evaluated. Results Among 91 fetuses with trisomy 21 syndrome, 95 fetuses were found with abnormal Down ＇s syndrome results （ 71.43% ） , including 40 high risk fetuses （43.96%）, 18 fetuses with abnormal single indication （19. 78% ）, 7 fetuses with abnormal multiple indications （7.69%） ; 49 fetuses were found with abnormal ultrasonic signs （53.85%） , including 27 fetuses with structural anomalies and abnormal soft indicator （29. 67% ）, 19 fetuses with simple structural anomalies （20. 88% ）, and 3 fetuses with simple soft indicator anomalies （3.30%） . Sixteen pregnant women were more than 35 years old, accounting for 17.58% ; five pregnant women had abnormal pregnancy history, accounting for 5.49%. Con- clusion Attaching importance to the indications for prenatal chromosomal examination, particularly among the elder pregnant women, the pregnant women having abnormal obstetrical history, Down＇s syndrome screening, and ultrasonic abnormalities, are effective indexes to pre- dict fetal chromosomal abnormalities, combining with non-invasive prenatal gene detection or chromosomal karyotyping, it has important clin- ical application value in predicting the birth of fetuses with trisomy 21 syndrome.

关 键 词：21-三体综合征 唐氏筛查 产前超声诊断 

分 类 号：R596.1[医药卫生—内科学]