What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
Polycystic Kidney Disease, Autosomal Recessive
What Your Test Results Mean:
Test results indicate that you are a carrier of polycystic kidney disease, autosomal recessive (ARPKD). Carriers are not expected to show symptoms. You and your partner would both have to be carriers of ARPKD for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
ARPKD is a severe condition that affects the kidneys and occasionally the liver. Affected individuals are often born with many cysts (fluid-filled sacs) in the kidneys, which impairs their ability to perform their normal functions. The cysts can also affect other organs, particularly the liver. In most affected individuals, symptoms are apparent soon after birth. Symptoms include difficulty breathing, enlarged cyst-filled kidneys, enlarged liver, high blood pressure, low blood cell counts, frequent urination, and pain in the back or sides. Rarely, affected individuals may not show symptoms until childhood or early adulthood. In these individuals, liver disease is more severe and kidney disease is often mild.
Prognosis is generally unfavorable, though survival rates have increased in recent years. Approximately 30% of affected infants die within the first year of life due to breathing difficulties. More than 50% of affected children develop kidney failure by age 10. With respiratory support and kidney replacement for newborns, the ten-year survival of those who live beyond the first year of life has improved to 82%. Fifteen-year survival is estimated to be 67-79% and may be improving.
Treatment for newborns focuses on stabilization of respiratory function by mechanical ventilation. Sometimes dialysis or surgery on the kidneys may be necessary in infancy. Once kidneys begin to fail, regular dialysis is required. Kidney transplantation may also be appropriate. Medications are administered to control high blood pressure. Liver transplantation is increasingly considered as a viable option for those with severe high blood pressure.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results