5590例就诊孕妇羊水染色体核型分布特征分析  

Analysis of the distribution characteristics of amniotic fluid in 5590 cases of pregnant women

作　　者：高干 李雪丽 杨兴兴 

机构地区：[1]柳州市妇幼保健院三楼检验科,广西545001

出　　处：《中国优生与遗传杂志》2017年第9期44-45,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过研究我院5590例孕妇羊水染色体核型检测结果,为优生优育提供实验依据。方法统计2015年1月至2015年12月柳州市妇幼保健院5590例孕妇羊水染色体结果,分析其阳性率、各异常核型分布情况以及各年龄段阳性差异。结果染色体阳性标本为152例,累积阳性率为2.72%,检出率为:三体综合征为73(48.03%)包括:47,XN,+21为58(38.16%)、47,XN,+18为8(5.26%)、47,XN,+13为7(4.61%)、易位t为15(9.87%)、倒位inv为9(5.92%)、缺失del为1(0.66%)、衍生染色体der为16(10.53%)、等臂染色体i为2(1.32%)、标记染色体mar/来自母体mat为4(2.63%)/其他染色体异常为32(21.71%),染色体阳性结果以三体综合征为主;三体综合征的比例随年龄增大而增加。结论羊水染色体检查是产前诊断的重要方法,可对降低出生缺陷、优生优育、提高人口素质起到重要作用。Objective：Researched the 5590 cases of amniotic fluid detection results of our hospital,to provided experimental basis for eugenics. Methods：Analysised the 5590 cases of maternal amniotic fluid chromosome results from January 2015 to December 2015 in our hospital,analysised the positive rate,the abnormal karyotype distribution and the different distribution between the ages. Results：There were 152 positive cases,the cumulative positive rate was 2.72%,the detection rate：47,XN,＋ 21（58,38.16%）,47,XN,＋ 18（8,5.26%）,47,XN,＋ 13（7,4.61%）, translocation t（15,9.87%）,inversions inv（9,5.92%）,lack of del（1,0.66%）,derivatives der chromosome（16,10.53%）,equal arm chromosome（2,1.32%）,marker chromosome mar/mat from the mother（4,2.63%）,other chromosomal abnormalities（32,21.71%）.Trisomy occupyed the most and increaseed with the ages. Conclusiom：Amniotic fluid chromosome examination was an important method of prenatal diagnosis,for reducing birth defects and eugenics sports,it played an important role in improving population quality.

关 键 词：染色体 核型分布 产前诊断 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]