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.
Nephrotic Syndrome/Congenital Finnish Nephrosis, NPHS1-Related
What Your Test Results Mean:
Test results indicate that you are a carrier of nephrotic syndrome/congenital Finnish nephrosis. Carriers are not expected to show symptoms. You and your partner would both have to be carriers of nephrotic syndrome/congenital Finnish nephrosis 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.
Nephrotic syndrome/congenital Finnish nephrosis is an inherited condition that prevents the kidneys from filtering protein out of the urine. Symptoms of the disease begin in the first days or weeks after birth. Infants are often born prematurely with a low birth weight. High levels of protein in the blood, combined with kidney failure, cause the body to swell with excess fluid. Frequent infections and potentially harmful blood clots can also develop.
Prognosis is generally unfavorable without treatment. Intensive medical therapy combined with kidney transplantation greatly improves outcomes and survival. If left untreated, death usually occurs before the age of four years.
Treatment involves intensive medical therapy to control bacterial infections combined with kidney transplantation. Successful kidney transplantation offers a good opportunity for survival with an acceptable quality of life for affected individuals.
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