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.
Cystic Fibrosis & CFTR-Related Disorders
What Your Test Results Mean:
Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of cystic fibrosis or a CFTR-related disorder 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.
Cystic fibrosis is an inherited condition that primarily affects the pulmonary and digestive systems. Most individuals with cystic fibrosis are diagnosed in childhood. Individuals with cystic fibrosis are unable to properly regulate epithelial chloride and sodium channels, leading to a buildup of mucus. This buildup of mucus increases the risk for lung infections and digestive problems. Additional signs and symptoms can include diarrhea, malnutrition, and poor growth. Men with cystic fibrosis are usually infertile because many do not have the vas deferens, an important organ responsible for transporting sperm. These men may be able to have children using assisted reproductive methods.
Some changes in the CFTR gene do not cause cystic fibrosis but instead cause a CFTR-related disorder. Examples of CFTR-related disorders include an increased risk for pancreatitis, an increased risk for pulmonary or lung problems, and an increased risk for a condition that causes male infertility known as congenital absence of the vas deferens.
Prognosis for cystic fibrosis is considered fair. While advances in research and treatment have greatly improved survival and quality of life, affected individuals still require lifelong medical care. The average expected lifespan for adults is approximately 35 years old. The prognosis for individuals with CFTR-related disorders can vary, as symptoms can be mild.
Treatment for cystic fibrosis involves long-term disease management that aims to prevent pulmonary complications and promote weight gain. Many individuals are pancreatic insufficient and therefore require oral pancreatic enzyme replacement. Some individuals may benefit from a lung transplant. Various medications have been introduced in recent years that treat the underlying issues in individuals with cystic fibrosis (ex. Kalydeco®, TrikaftaTM, Orkambi®). Individuals taking these medications have shown improvement and/or stabilization in lung function. Treatment for individuals with CFTR-related disorders can vary, as individuals may only have congenital absence of the vas deferens or pancreatitis.
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