2081例唐氏筛查高风险孕妇羊水的染色体异常异常频率分析  

Analysis the rate of chromosomal abnormality in 2081 cases of Down′s syndrome screening of high risk pregnant amniotic fluid

作　　者：谢润桂[1] 魏顺娣[1] 张晓燕[1] 何晓旋 马秋林[1] 

机构地区：[1]东莞市妇幼保健院产前诊断中心,广东东莞523107

出　　处：《中国优生与遗传杂志》2015年第6期40-41,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨唐氏筛查高风险指征对检出胎儿染色体异常的预测意义。方法选择2010年1月至2014年3月因孕中期唐氏筛查高风险,在我院产前诊断中心做染色体核型分析的孕妇2081例,总结各种染色体异常的分布情况。结果 2081例唐氏筛查高风险孕妇共发现染色体异常62例(2.98%),其中非整倍体异常43例(2.07%),染色体结构异常19例(0.91%)。结论唐氏筛查高风险指征能够筛查出携带有染色体非整体异常或染色体结构异常的异常胎儿,可能对降低染色体异常的胎儿出生率有意义。Objective： To investigate the valule of high risk of Down＇ s syndrome screening for predicting fetal chromosomal abnormalities at birth. Methods： 2081 cases of pregnant women called for chromosome karyotype analysis due to the high-risk of Down＇ s screening in prenatal diagnosis center in our hospital from January 2010 to March 2014 were reviewed, Summarizing the distribution of various chromosome abnormalities. Result： 62 cases were detected chromosome abnormalities in the 2081 cases with high risk of Down＇s syndrome screening （the rate was 2.98%） , including aneuploidy abnormality 43 cases （2.07%） , and 19 cases with chromosomes structure abnormality （0.91%） . Conclusion： High risk of Down＇ s syndrome screening index can be screened including aneuploidy abnormality and chromosome structural abnormality of fetal abnormalities, which may lead to the decrease of chromosomal abnormalities in fetal birth rate.

关 键 词：唐氏筛查高风险 染色体异常 无创产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]