Prenatal Genetic Analysis of Fetal 17q12 Microdeletion Syndrome and Relation to 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 retrospectively analyzed fetuses diagnosed with renal abnormalities between January 2016 to August 2022 using CNV-Seq and SNP. The pregnancy outcomes were followed up for 2 months after birth. All results have been descriptively analyzed. Results: Among a total of 141 patients (4.5%) with renal dysplasia, 26 patients (26/141) had enhanced renal echo (hyperechogenic kidney; HCK), of which 10 were isolated HCK and 16 were non-isolated HCK. It was found that results of chromosome examination were abnormal in 14 (14/26) patients, of which 12 were diagnosed with 17q12 microdeletion syndrome. Moreover, there were 14 cases of 17q12 microdeletion syndrome in all patients with renal dysplasia, including 12 cases with HCK and 2 cases with other renal abnormalities. Chromosome family verification revealed that 5 fetuses had new mutations and 2 fetuses had inherited mutations. After excluding HCK patients, the incidence of chromosomal abnormalities in patients with polycystic kidneys was higher than that in patients with polycystic kidney dysplasia and renal dysplasia. The chromosomes in patients with isolated horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney were usually normal. Nevertheless, the incidence of chromosomal abnormalities increases when combined with other abnormalities. Most patients with normal chromosomes or uncertain clinical significance choose to give birth and had a good prognosis, but adverse pregnancy outcomes could not be ruled out. Conclusion: It was found that HCK was closely related to 17q12 microdeletion syndrome. Chromosomal examinations of patients with other renal abnormalities (isolated polycystic kidney dysplasia, renal dysplasia, horseshoe kidney, hydronephrosis, renal deficiency, ectopic kidney) were mostly normal. In combination with abnormal results, prenatal diagnosis is recommended. This study provides more evidential data that supports the relationship between fetal kidney and chromosomal abnormalities.