Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …

Objective Determine the incremental yield of prenatal exome sequencing (PES) over
chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs) …

Background Fetal hyperechogenic kidneys (HEK) are associated with a wide range of
etiologies and prognoses. Prenatal counselling and management can be extremely …

Background Some ultrasonic soft markers can be found during ultrasound examination.
However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study …

Polycystic Kidney Diseases (PKDs) consist of a genetically and phenotypically
heterogeneous group of inherited disorders characterized by numerous renal cysts. PKDs …

Objectives This retrospective study aimed to investigate the correlations between
phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies …

Fetal hyperechogenic kidneys (HEK) is etiologically a heterogeneous disorder. The aim of
this study was to identify the genetic causes of HEK using prenatal chromosomal microarray …

Objectives To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK).
Methods We conducted a retrospective chart review of HEK in British Columbia (January …

Isolated bilateral hyperechoic kidneys (HEK) on prenatal ultrasound presents diagnostic,
prognostic, and counseling challenges. Prognosis ranges from normal outcome to lethal …

Objective To present the experience on prenatal features of 17q12 microdeletion and
microduplication syndromes. Materials and methods Prenatal chromosomal microarray …