单一产前诊断指征与胎儿染色体核型异常的关系分析  

Correlation of sole prenatal indication to fetal chromosomal karyotype abnormality

作　　者：徐盈[1] 郭芬芬[1] 黎昱[1] 徐慧[1] 宋婷婷[1] 郑娇[1] 陈必良[1] 张建芳[1] XU Ying GUO Fen-fen LI Yu XU Hui SONG Ting-ting ZHENG Jiao CHEN Bi-liang ZHANG Jian-fang(Department of Obstetrics and Gynecology, Xijing Hospital, Fourth Military Medical University, Xi＇an 710032j China)

机构地区：[1]第四军医大学西京医院妇产科,西安710032

出　　处：《解放军医学杂志》2017年第2期163-166,共4页Medical Journal of Chinese People's Liberation Army

摘　　要：目的探讨胎儿染色体异常的临床高危因素。方法回顾性分析2011年1月-2016年7月存在高龄、血清学筛查高风险和胎儿超声发育异常等单一产前诊断指征的4829例孕妇的临床资料。采用羊膜腔穿刺技术及胎儿染色体核型检测联合分析这些孕妇产前诊断指征与胎儿染色体异常发生的关系。结果单纯高龄组(n=1143)检出染色体核型异常57例,检出率5.0%;单纯血清学筛查高风险组(n=2367)检出染色体核型异常40例,检出率1.7%;单纯胎儿超声异常组(n=1319)共检出染色体核型异常57例,检出率4.3%,染色体多态性结构34例,检出率2.6%,其中胎儿心脏异常(333例)、羊水量异常(234例)、脑室扩张(89例)、胎儿心室强光点(898例)、脉络膜囊肿(34例)和肾盂增宽(18例)的核型异常检出率分别为6.9%(23/333)、8.5%(20/234)、1.1%(1/89)、1.1%(10/898)、5.9%(2/34)和5.6%(1/18)。结论高龄产妇、胎儿超声结构或软指标两项及以上异常并有其他畸形时,应当行产前诊断检查及结合家族史进行遗传咨询。Objective To analysis the clinical high risk factors for fetal chromosomal abnormalities. Methods Amniocentesis, chromosomal karyotype analysis and other related methods were performed on 4829 pregnant women, who presented sole indication of prenatal diagnosis such as advanced age, high risk factors and fetal ultrasound abnormalities, for analyzing the correlations of those women to the incidence of fetal chromosomal abnormalities. Results The detection rates of abnormal karyotype were 5.0%（57/1143）, 1.7%（40/2367） and 4.3%（57/1319） in the older women group（age35）, abnormal maternal serological screening group and abnormal fetal ultrasound finding group, respectively. The detection rats of karyotype abnormality were 6.9%（23/333） in women with fetal congenital heart diseases, 8.5%（20/234） in those with abnormal amniotic fluid, 1.1%（1/89） in those with fetal ventriculomegaly, 1.1%（10/898） in those with fetal intracardiac hyperechogenicity, 5.9%（2/34） in those with fetal choroid cyst and 5.6%（1/18） in those with fetal renal pelvis broadening. Conclusion The pregnant women with age35, fetal sonographic structural anomalies or two or more soft marker abnormalities should be prenatally diagnosed and doing the genetic counseling combined with the family history.

关 键 词：产前诊断 羊膜腔穿刺术 染色体畸变 

分 类 号：R596.1[医药卫生—内科学]