6650例高危孕妇产前诊断临床分析  

Clinical analysis on prenatal diagnosis of 6650 high risk pregnant women

作　　者：高健[1] 余小平[1] 李亚丽[1] 楚伟[1] 冉战玲[1] 郭文潮[1] 王方娜[1] 马丽爽[1] 

机构地区：[1]河北省人民医院,河北石家庄050051

出　　处：《中国妇幼保健》2014年第11期1657-1660,共4页Maternal and Child Health Care of China

基　　金：河北省科技计划重点项目〔11276102D〕;河北省卫生厅科技项目〔07004〕

摘　　要：目的：评价产前诊断技术在高危孕妇中的应用。方法：回顾性分析6650例因各种高危因素在河北省人民医院行产前诊断的临床病例资料。结果：超声实时引导下徒手羊膜腔穿刺细胞培养染色体核型分析4918例，超声引导下胎儿脐静脉穿刺细胞培养染色体核型分析1851例，超声引导下胎儿膀胱液穿刺细胞培养染色体核型分析3例，微阵列基因组杂交检测76例。检出染色体异常311例，染色体微缺失／微重复11例。在因21三体高危确诊染色体异常的57例中，约1／2—1／3（25／57）的染色体异常与21号无关，因18三体高危确诊染色体异常的9例中，有2／3（6／9）与18号染色体无关。因超声软指标进行产前诊断确诊染色体异常的胎儿占全部染色体异常胎儿的38．26％（119／311）。成功随访羊膜腔穿刺4885例，胎儿丢失4例，羊膜腔穿刺相关的胎儿丢失率0．08％（4／4885）；胎儿脐静脉穿刺1845例，胎儿丢失1例，胎儿脐静脉穿刺相关的胎儿丢失率0．05％（1／1845）。结论：介入性产前诊断是一种较为安全的穿刺技术，穿刺相关胎儿丢失率低，能准确为孕妇提供相关信息，选择适宜人群进行检测对提高产前诊断的综合效率有着积极的意义。Objective： To evaluate the application of prenatal diagnosis technology in high risk pregnant women. Methods： The clinical data of 6 650 high risk pregnant women receiving prenatal diagnosis in the hospital were analyzed retrospectively. Results： A total of 4 918 cases underwent real time ultrasound -guided unarmed amniotic cavity puncture, cell culture, and chromosomal karyotyping; 1 851 cases underwent ultrasound -guided fetal umbilical vein puncture, cell culture, and chromosomal karyotyping; 3 cases underwent ultrasound - guided fetal bladder fluid puncture, cell culture, and chromosomal karyotyping ; 76 cases underwent microarray genomic hybridization; 311 cases were found with chromosomal abnormality and 11 cases were found with chromosomal microdeletion/microduplication; among 57 cases diagnosed as chromosomal abnormality definitely because of high risk trisomy 21,25 cases were not correlated with abnormality of chromosome 21 ; among 9 cases diagnosed as chromosomal abnormality definitely because of high risk trisomy 18, 6 cases were not correlated with abnormality of chromosome 18; among 311 fetuses with chromosomal abnormality, 119 fetuses were diagnosed as chromosomal abnormality during prenatal diagnosis because of ultrasonic soft indexes, accounting for 38.26% ; 4 885 cases undergoing amniocentesis were followed up successfully, fetal loss was found in 4 cases, the incidence rate of fetal loss was 0. 08 % （4/4 885 ） ; 1 845 cases undergoing fetal umbilical vein puncture were followed up successfully, fetal loss was found in one case, the incidence rate of fetal loss was 0. 05% （ 1/1 845 ） . Conclusion ： Interventional prenatal diagnosis is a relatively safe puncture technique, the incidence rate of puncture related fetal loss is low, which can accurately provide related information for pregnant women, choosing appropriate crowd has active significance for improving the comprehensive efficiency of prenatal diagnosis.

关 键 词：产前诊断 羊膜腔穿刺 胎儿脐静脉穿刺 核型分析 微阵列基因组杂交 

分 类 号：R714.5[医药卫生—妇产科学]