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.
Hereditary Fructose Intolerance
What Your Test Results Mean:
Test results indicate that you are a carrier of hereditary fructose intolerance. Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of hereditary fructose intolerance 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.
Hereditary fructose intolerance is an inherited condition that affects a person’s ability to digest the sugar fructose, found mostly in fruits. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar. Affected infants may fail to grow and gain weight at the expected rate, and repeated ingestion of fructose-containing foods can lead to liver and kidney damage. Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. However, most affected individuals can live without these symptoms by following a diet free of fructose, sucrose, and sorbitol.
Early diagnosis and strict fructose restriction are vital for a good prognosis. Disease symptoms usually disappear with a totally fructose-free diet. Once fructose is restricted, infants often develop a self-protective dislike to foods that cause symptoms. Poor management or lack of treatment can lead to poor feeding, growth failure, jaundice, hepatomegaly, hemorrhage, and progressive liver damage, which may be fatal in some cases.
Treatment includes dietary restriction of fructose. Early diagnosis and early implementation of diet is ideal.
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