How is ARPKD Diagnosed?

Some families may hear their doctor say the kidneys look “echogenic” (more white) during an ultrasound, which can indicate kidney problems such as ARPKD.

Prenatal genetic testing is possible using samples from either chorionic villus sampling or amniocentesis samples. The former is a prenatal test that analyzes a small sample of cells and the latter extracts a small amount of amniotic fluid from the womb.

These genetic tests can involve a direct search of the gene for mutations or an indirect association using linkage analysis. For linkage analysis, DNA samples are required from the fetus, a previously affected child, and the parents.

Another option for prenatal diagnosis in affected families is a recently developed procedure called pre-implantation genetic diagnosis, or PGD. Also known as PGD, this genetic diagnosis involves the early detection of specific genetic abnormalities in single cells taken from fertilized human embryos.

The PGD procedure involves in vitro fertilization-eggs harvested from a mother are fertilized in a laboratory with the father’s sperm. Then, the fertilized embryos are tested for ARPKD by removing one or two cells for genetic analysis.

Embryos determined to be free of the disorder are then placed in the uterus with the intent to initiate a pregnancy.