新疆地区5932例产前胎儿羊水染色体核型分析  

Analysis of chromosome karyotype of amniotic fluid cells in 5932cases of women in the second trimester of pregnancy

作　　者：马晓蓉 郭晓利 李慧君 代文成 张紫薇 薛淑媛 MA Xiaorong;GUO Xiaoli;LI Huijun;DAI Wencheng;ZHANG Ziwei;XUE Shuyuan(Department of Prenatal Diagnosis,Maternal and Child Health Care Hospital of Urumqi,Urumqi,830000,China)

机构地区：[1]新疆维吾尔自治区乌鲁木齐市妇幼保健院产前诊断中心,乌鲁木齐830000

出　　处：《新疆医学》2025年第2期195-199,共5页Xinjiang Medical Journal

基　　金：新疆维吾尔自治区科技创新团队(天山创新团队)(项目编号:2022TSYCTD0016)。

摘　　要：目的对本院2018年1月至2022年12月,5932例孕中期各类高危因素做羊水染色体核型分析的孕妇结果以及不同产前诊断指征的异常检出率进行分析探讨。方法在无菌条件下,由B超定位,抽取羊水进行细胞培养,收获,G显带,进行染色体核型分析。结果共检出异常核型760例,异常检出率12.81%(760/5932),其中染色体数目异常521例,检出率8.78%(521/5932),结构异常239例,检出率4.03%(239/5932)。760例异常核型的指征构成比分布情况,无创阳性占比46.32%,超声异常占比24.74%,高龄占比13.82%,产筛高风险占比7.76%,不良孕产史占比4.47%,其他占比2.89%。结论对具有产前诊断指征的孕妇进行羊膜腔穿刺,进行羊水细胞染色体核型分析可有效诊断胎儿染色体病,减少染色体病患儿出生,是预防出生缺陷的重要手段。Objective From January 2018 to December 2022,the results of chromosome karyotype analysis of amniotic fluid in5932 pregnant women with various high risk factors in the second trimester of our hospital and the abnormal detection rate of different prenatal diagnostic indications were analyzed and discussed.Methods Under sterile conditions,amniotic fluid was extracted for cell culture,harvested,G-band,and karyotype analysis was performed by B-ultraposition.Results A total of 760 cases of abnormal karyotypes were detected,with an abnormal detection rate of 12.81%(760/4665),of which 521 cases had an abnormal number of chromosomes,with a detection rate of 8.78%(521/5932),and 239 cases of structural abnormalities,with a detection rate of 4.03%(239/5932).The proportion of indications and composition of 760 abnormal karyotes was 46.32% noninvasive positive,24.74% of ultrasound abnormalities,13.82% of advanced age,7.76% of high risk of screening,4.47% of bad pregnancy history,and 2.89% of others.Conclusions Amniocentesis of pregnant women with prenatal diagnostic indications,amniotic fluid cells karyotype analysis can effectively diagnose fetal chromosomal diseases,reduce the birth of children with chromosomal diseases,and is an important means to prevent birth defects.

关 键 词：产前诊断 核型分析 染色体异常 羊水细胞 

分 类 号：R715.5[医药卫生—妇产科学]