How is ARPKD diagnosed?


Enlarged kidneys typically prompt a test for autosomal recessive polycystic kidney disease (ARPKD). In some babies, a prenatal ultrasound can detect enlarged kidneys as early as 18 weeks after conception. Families may also hear the kidneys look “echogenic” (emitting echo signals) during an ultrasound, which can be an indicator of kidney problems such as ARPKD.

Genetic diagnosis (or pre-implantation genetic diagnosis) is an early form of testing that can detect specific abnormalities in single cells taken from fertilized human embryos. Embryos that are diagnosed as free of the disorder are then placed in the uterus with the intent to initiate a pregnancy; embryos that test positive for the disorder are destroyed.