174例超声诊断泌尿系统异常胎儿的染色体结果分析  

Analysis of Chromosomal Results in 174 Cases of Fetus with Urological System Abnormality Diagnosed by Ultrasound

作　　者：蔡浩昱 万陕宁 李远凤 赵丽莎 李佳 徐盈 杨红 Cai Haoyu;Wan Shanning;Li Yuanfeng;Zhao Lisha;Li Jia;Xu Ying;Yang Hong(Department of Obstetrics and Gynecology,The First Affiliated Hospital of Air Force Medical University,Xi'an 710032,China)

机构地区：[1]空军军医大学第一附属医院妇产科,西安市710032

出　　处：《中国超声医学杂志》2022年第10期1145-1147,共3页Chinese Journal of Ultrasound in Medicine

摘　　要：目的 通过对泌尿系统异常胎儿超声诊断与染色体结果的分析研究,探讨胎儿泌尿系统发育异常的遗传基础。方法 获取174例本中心或外院超声诊断为泌尿系统异常胎儿的羊水细胞,进行G显带核型分析和染色体微阵列分析检测。结果 107例孤立性泌尿系统异常组中,检出1例染色体异常胎儿(0.9%)。67例合并其他超声软指标异常或结构畸形组中,检出3例染色体异常胎儿(4.5%)。其中CMA结果阴性的胎儿核型为9号染色体臂间倒位,核型发现标记染色体的胎儿CMA确认其为18号染色体的整条短臂。结论 泌尿系统异常胎儿合并其他超声软指标异常或结构畸形时,染色体异常检出率略高于单纯泌尿系统异常的胎儿。核型和CMA检查对泌尿系统异常胎儿进行产前诊断具有一定意义。Objective The genetic basis of fetal abnormal development of urinary system was discussed by analyzing the ultrasonic diagnosis and chromosomal results of fetal abnormal development of urinary system. Methods A total of 174 amniotic fluid cells of fetuses with urological system abnormalities diagnosed by ultrasound in our center or other hospitals were collected for G-band karyotype analysis and Chromosomal Microarray analysis. Results Chromosomal abnormalities was detected in one fetus(0.9%) of 107 isolated urological system abnormalities. Chromosomal abnormalities were detected in three fetuses(4.5%) of 67 cases with other soft ultrasound abnormalities or structural abnormalities. The fetal karyotype with negative CMA result was interarm inversion of chromosome 9, and the fetal karyotype with marker chromosome was confirmed by CMA to be the whole short arm of chromosome 18. Conclusions The rate of chromosomal abnormality was slightly higher in the fetus with urological system abnormality combined with other soft ultrasonic indicators abnormality or structural malformation. Karyotype and CMA examination have certain significance in prenatal diagnosis of the fetus with abnormal urinary system.

关 键 词：胎儿泌尿系统异常 核型 染色体微阵列分析 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]