Abstract
Background
Prenatal diagnosis of fetal hyperechogenic kidney poses a challenge. The aim of this study was to investigate the genetic reasons and prognosis of fetal hyperechogenic kidney diagnosed on prenatal ultrasonography.
Methods
We retrospectively reviewed the clinical data of 80 cases of prenatally diagnosed fetal hyperechogenic kidney by the obstetric ultrasound. The genetic characteristics and pregnancy outcomes were analyzed using chromosome karyotype analysis, chromosome microarray analysis, and whole-exome sequencing.
Results
Of the 80 cases, 48 (60%) were those of isolated fetal hyperechogenic kidney and 32 (40%) were those of non-isolated cases, including 4 cases (5%) of urinary system abnormalities, 7 (8.75%) of central nervous system abnormalities, 5 (6.25%) of cardiac abnormalities, and 16 (20%) of multiple abnormalities. Chromosome karyotype analysis and microarray analysis revealed 17 (21.25%) abnormalities, including isolated fetal hyperechogenic kidney (9, 11.25%) and chromosome microdeletion microduplication (17q12 microdeletion syndrome, Williams-Beuren syndrome, 4p16.3-p16.1 microduplication syndrome) (8, 10%). Moreover, 9 patients had single gene mutations, including those of BBS2, BBS7, HNF1B, ACE, CEP290, COL4A5, and PKHD1. Total 48 pregnancies were terminated (57.3%), and the remaining 32 fetuses survived and grew normally, the neonatal renal function tests were normal.
Conclusions
Fetal hyperechogenic kidney chromosome abnormalities are common, in particular, there is considerable prevalence of isolated fetal hyperechogenic kidney. Therefore, advances in prenatal diagnosis are crucial, if necessary, with the combined use of whole-exome sequencing and other comprehensive detection methods.