佛山地区产前诊断9688例染色体异常核型分析  

Analysis of 9688 cases of abnormal karyotype of chromosome in prenatal diagnosis in Foshan area

作　　者：刘娟[1] 钟进[1] 郭晓玲[1] 刘正平[1] 

机构地区：[1]广东省佛山市妇幼保健院产科,广东佛山528000

出　　处：《中国优生与遗传杂志》2016年第9期30-32,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对近5年佛山地区羊水细胞染色体异常核型产前诊断指征分析,探讨产前诊断指征在预防出生缺陷的价值。方法回顾2010年1月至2015年12月在我院因产前血清筛查高风险、超声检查疑胎儿染色体异常等原因行产前诊断的胎儿染色体核型分析。结果 9688例产前诊断中发现胎儿染色体异常716例,染色体异常检出率7.4%。其中性染色体异常23例、性染色体异常23例、18三体38例、21三体142例、13三体10例、易位28例等。9688例中因胎儿发育异常为指征有876例,唐氏高风险3740例,年龄高风险1549例。结论孕期的产前血清筛查是预防出生缺陷的有效措施,年龄≥35岁的孕妇直接行产前诊断仍是有必要的,血清筛查的单项中倍数值异常增高、胎儿结构异常和超声软指标与染色体异常有较高的相关性。Objective：Through the analysis of indication in nearly 5 years in Foshan area of amniotic fluid cells abnormal karyotype of chromosome in prenatal diagnosis,prenatal diagnosis indications on the prevention of birth defects of the value. Methods：From January 2010 to December 2012 in our hospital due to the high risk of prenatal serum screening,ultrasonography of fetal chromosomal abnormalities for prenatal diagnosis analysis. Results：9688 cases of prenatal diagnosis of fetal chromosome abnormalities found in 716 cases,the detection rate of abnormal chromosome 7.4%. The sex chromosomes in 23 cases,abnormal sex chromosome in 23 cases,38 cases of trisomy 18,trisomy 21 in 142 cases,10 cases of trisomy 13,28 cases of balanced translocation,and so on. In 9688 cases of abnormal due to abnormal development of fetus as indications of 876 cases,Downsyndrome high-risk of 3740 cases,1549 cases of high risk age.Conclusion：Prenatal serum screening in pregnancy are effective measures to prevent birth defects,35 years of age or older pregnant women underwent prenatal diagnosis is still necessary,serum screening single numerical abnormality in times,higher fetal structural abnormalities and ultrasonic soft indexes and chromosomal abnormalities associated.

关 键 词：产前诊断 染色体异常 产前筛查 遗传咨询 

分 类 号：R714.55[医药卫生—妇产科学]