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.
What Your Test Results Mean:
Test results indicate that you are a carrier of Pendred syndrome. Carriers typically show no symptoms. Risk for current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor for 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.
Pendred syndrome is an inherited condition that affects inner ear formation and the thyroid gland. Because individuals with Pendred syndrome are born with varying degrees of inner ear malformation, they are born with or soon develop moderate to profound deafness. Some individuals also have difficulty with balance. Affected individuals also have enlarged thyroid glands, and though this does not usually lead to thyroid malfunction, the enlargement (goiter) may lead to discomfort and difficulty swallowing and breathing.
Prognosis is generally good. Most individuals with Pendred syndrome present with profound deafness before they are able to speak, but a minority develop progressive hearing impairment later on. Some individuals will develop hypothyroidism and 60% of individuals develop goiters. However, thyroid problems can be managed with nutritional iodine. Pendred syndrome does not affect life expectancy.
Treatment for Pendred syndrome is focused on addressing hearing loss. Children may be fitted for hearing aids early in life. Educational programs for the hearing impaired and cochlear implantation may also be considered. For goiters, treatment may include radioactive iodine and/or surgery.
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