Prenatal Genetic Analysis of Kidney Abnormalities

Abstract

Abstract Objective: To systematically analyze the genetic features of fetal renal abnormalities and the prenatal characteristics of 17q12 microdeletion syndrome. Methods: We retrospective analysis of fetal diagnosed with renal abnormalities from January 2016 to August 2022. Chromosome test, fetal renal abnormalities and pregnancy outcomes were performed in a descriptive analysis. Results: 141 patients (4.5%) showed abnormal renal development and 26 patients (26/141) with hyperechogenic kidneys (HCK), 14 (14/26) cases showed chromosomal abnormalities, 12 patients were 17q12 microdeletion syndrome. In addition, there were 14 17q12 microdeletion syndrome among the patients, and 12 fetal had hyperechogenic kidneys (HCK), 7 fetal were verified by couples, 5 fetal had new mutations, and 2 fetal inherited from parents. After excluding patients with HCK, the polycystic kidney has a higher rate of chromosomal abnormalities compared to polycystic renal dysplasia and renal dysplasia. The chromosomal of isolated horseshoe kidney, hydronephrosis, ectopic kidney and unilateral kidney often were normal, and the chromosomal abnormalities rate was increased when combined with other abnormalities. Conclusion: Fatal HCK was closely related to 17q12 microdeletion syndrome. The chromosome test result of patients with isolated polycystic kidney dysplasia, kidney dysplasia, horseshoe kidney, hydronephrosis, kidney deficiency, and ectopic kidney were mostly normal. Prenatal diagnosis was recommended, specifically in the fetus had non-isolated renal abnormalities. Most patients with normal chromosomes or uncertain clinical significance choose to produce, but adverse pregnancy outcomes were not excluded. This study will provide more data support for fetal renal abnormalities.