Compound heterozygosity of a de novo submicroscopic deletion and an
inherited frameshift pathogenic variant in the PKHD1 gene in a
fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen
and oligohydramnios
Abstract
We present a fetus with bilaterally enlarged and echogenic kidneys.
Prenatal testing detected compound heterozygosity for a 0.676 Mb
de novo deletion and an inherited pathogenic variant in
PKHD1. This is the first case of autosomal recessive polycystic
kidney disease (ARPKD) with a prenatally detected disease-causing
PKHD1 deletion.
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