产前超声预测胎儿肾脏回声增强的妊娠结局与染色体结果分析

Prenatal Ultrasound Predicts Pregnancy Outcome and Chromosomal Outcome of Fetal Hyperechogenic Kidney

摘要: 目的：预测产前超声诊断的胎儿肾脏回声增强的妊娠结局，并对相关染色体的结果进行分析，为临床制定妊娠方案提供相关证据。方法：收集于威海市妇幼保健院自2017年至2021年7月超声诊断胎儿肾脏回声增强的病例共计45例，可分类为单纯性23例、复杂性22例。其中复杂性表现为除肾脏本回声增强外，还可包括泌尿系统、神经系统、心脏、肢体、颜面发育异常等。分析其产前超声表现及染色体结果。结果：45例病例均进行羊水穿刺，两组羊水量的多与少、肾脏大小、累及肾脏数目差异均无统计学意义；其中单纯性增强染色体正常者21例，存在17q12染色体缺失2例；复杂性增强染色体正常者9例，异常者13例。单纯性增强活产21例，引产2例；复杂性增强活产5例，引产17例。综上，1) 胎儿肾脏回声增强可以独立存在，当合并其他系统畸形时最常见的表现即为泌尿系统的异常；2) 胎儿肾脏回声增强可能与多种染色体异常有关，单纯的胎儿肾脏回声增强可能与17q12染色体的微缺失存在关系，复杂性肾脏回声增强可与多种染色体异常相关；3) 单纯性的胎儿肾脏回声增强的新生儿出生率比复杂性的要高，且新生儿的预后良好。

Abstract: Objectives: To predict the pregnancy outcome of fetal hyperechogenic kidney diagnosed by prenatal ultrasonography, and analyze the results of related chromosomes to provide relevant evidence for clinical planning of pregnancy. Methods: A total of 45 cases were collected in Weihai Women and Child Hospital from 2017 to July 2021 with ultrasound-diagnosed fetal hyperechogenic kidney, which can be classified into 23 simple cases and 22 complex cases. Among them, the complexity is that in addition to the hyperechogenic kidney, it can also include abnormal development of the urinary system, nervous system, heart, limbs, and face, etc. Results: Amniocentesis was performed in all 45 cases, there was no significant difference in the amount of amniotic fluid, the size of the kidney, and the number of involved kidneys between the two groups. Among them, 21 cases of simple hyperechogenic kidney were normal and 2 cases had 17q12 chromosome deletion. Complexity hyperechogenic kidney chromosomes were normal in 9 cases and abnormal in 13 cases. 21 cases of simple hyperechogenic kidney live birth and 2 cases of induced labor; Complex hyperechogenic kidney live births in 5 cases and induction of labor in 17 cases. To sum up, 1) fetal hyperechogenic kidney can exist independently, and the most common manifestation when combined with other system malformations is the abnormality of the urinary system; 2) fetal hyperechogenic kidney may be related to a variety of chromosomal abnormalities. The enhanced hyperechogenic kidney may be related to the microdeletion of chromosome 17q12, and the complex hyperechogenic kidney can be associated with a variety of chromosomal abnormalities; 3) the neonatal birth rate of simple fetal hyperechogenic kidney is higher than that of complex ones, and the neonatal prognosis is good.