胎儿肾脏回声增强的产前超声诊断及染色体结果分析

目的探讨胎儿肾脏回声增强的产前超声表现及染色体结果分析。方法收集于我院产前超声发现的胎儿肾脏回声增强病例210例,分为单纯性肾脏回声增强组、合并其他畸形的肾脏回声增强组,分析其产前超声表现及染色体结果。结果单纯性肾脏回声增强组86例(86/210,41.0%),合并其他畸形的肾脏回声增强组124例(124/210,59.0%),主要累及泌尿生殖系统、心脏、中枢神经系统、骨骼系统、消化系统等,其他包括膈疝、肺囊腺瘤样病变、单脐动脉等。62例行染色体检查,未见异常者30例,合并17q12染色体微缺失20例及合并其他染色体异常12例。结论 (1)肾脏回声增强可孤立存在,也可合并多系统畸形,最常见的是泌尿生殖系统疾病。(2)肾脏回声增强可合并多种染色体异常,其中17号染色体微缺失较多见,提示17号染色体与胎儿肾脏疾病关系密切。

Prenatal Ultrasound Diagnosis and Chromosome Analysis of Fetal Hyperechogenic Kidney

Objective To investigate the prenatal ultrasonographic features and chromosome analysis of fetal hyperechogenic kidneys. Methods 210 cases of fetal hyperechogenic kidneys detected by prenatal ultrasound in our hospital were divided into two groups: Isolated or with other congenital anomalies. The prenatal ultrasound manifestations and chromosome results were analyzed. Results There were 86 cases(86/210, 41.0%) of isolated hyperechogenic kidneys and 124 cases(124/210, 59.0%) of complex hyperechogenic kidneys which mainly affected the urogenital system, heart, central nervous system, skeletal system, digestive system, and additional findings included congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, single umbilical artery, et al. The chromosome inspections were made in 62 cases. No abnormality was found in 30 cases. Twenty cases were complicated with 17q12 chromosome microdeletion and 12 cases with other chromosome abnormalities. Conclusions(1) Hyperechogenic kidneys can exist in isolation or in combination with multiple system malformations, the most common of which is urogenital diseases.(2) Hyperechogenic kidneys may be associated with multiple chromosomal abnormalities, of which microdeletions of chromosome 17 are most common, suggesting that chromosome 17 is closely related to fetal kidney disease.