摘要
目的探讨终止妊娠病例中染色体异常的类型及占比,为减少出生缺陷提供产前检查指导。方法通过对316例终止妊娠病例做中孕期羊水穿刺、晚孕期胎儿脐血穿刺,行细胞遗传学检查。结果 316例终止妊娠病例中检出异常核型244例(77. 2%),正常核型72例(22. 8%)。其中21-三体综合征155例,18-三体综合征55例,13-三体综合征7例,性染色体异常26例; 115例高龄孕妇中检出染色体异常100例,异常率达87. 0%。结论在终止妊娠病例中,染色体异常是其重要原因,以21-三体综合征最多见。高危孕妇应行产前染色体诊断,最大限度地避免染色体异常胎儿出生。
Objective To investigate the type and proportion of chromosome abnormality in pregnancy and provide prenatal guidance for reducing birth defects. Methods Cytogenetic tests were performed on 316 cases of pregnant women who were pregnant with amniotic fluid puncture and fetal umbilical cord blood puncture during pregnancy. Results There were 244 cases of abnormal nuclear type( 77. 2%) and 72 cases( 22. 8%) of the normal nuclear type. Among them,there were 155 cases of21-trisomy syndrome,55 cases of 18-trisomy syndrome,7 cases of 13-trisomy syndrome,26 cases of sex chromosome abnormality. There were 100 cases of chromosomal abnormality in 115 elderly pregnant women,with an abnormal rate of87. 0%. Conclusion Chromosome abnormality is the most important reason in the termination of pregnancy,with 21-trisomy syndrome as the dominant. High-risk pregnant women should undergo prenatal chromosome diagnosis to minimize the birth of chromosomal diseases.
作者
徐雪琴
林小玲
周丽丽
毛义建
唐少华
XU Xue -qin;LIN Xiao -ling;ZHOU Li -li;MAO Yi -jian;TANG Shao-hua(Clinical Laboratory,Wenzhou Central Hospital,Wenzhou,Zhejiang 325000,China)
出处
《中国卫生检验杂志》
CAS
2019年第2期209-210,214,共3页
Chinese Journal of Health Laboratory Technology
基金
浙江省卫计委项目(2015RCB027)
温州市公益性科技计划项目(Y20140745)
关键词
终止妊娠
染色体
出生缺陷
Termination of pregnancy
Chromosome
Birth defects
作者简介
徐雪琴(1980-),女,硕士,副主任技师,主要从事产前筛查和产前诊断工作;通讯作者:唐少华,E-mail:wzxxq@139.com