Cystic Fibrosis Carrier Screening & NIPT

What is UNITY Fetal Risk Screen(™) for cystic fibrosis?

UNITY Screen (™) is a one-of-a-kind carrier screen combined with single-gene NIPT that determines if you are a carrier for cystic fibrosis and if your pregnancy has a high or low risk of being affected with cystic fibrosis. For those who are found to be a cystic fibrosis carrier and currently pregnant, UNITY Screen (™) automatically performs single-gene NIPT to determine if your pregnancy has a high chance of having cystic fibrosis. If you are not a carrier for cystic fibrosis, the risk that your baby has cystic fibrosis is extremely low. Based on your UNITY Screen (™) fetal risk screen results your healthcare provider will discuss next steps or any recommended follow-up testing.

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The American College of Obstetricians and Gynecologists recommends that anyone planning to start a family or those who are already pregnant be offered carrier screening for inherited conditions, including cystic fibrosis.

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What is cystic fibrosis?

Cystic fibrosis (CF) is an inherited condition that causes the body to produce unusually thick mucus, which builds up in the respiratory and digestive systems. It is caused by mutations, or changes, in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) genes inherited from both parents. The CFTR genes provide instructions for making a protein that regulates the movement of salt and water in and out of cells. When these genes are altered, the CFTR protein does not function properly, leading to the production of thick, sticky mucus.

This buildup of mucus can lead to frequent infections, inflammation, malnutrition, poor growth, and sometimes male infertility. Symptoms can range from mild to severe, depending on the specific genetic mutations involved. Individuals affected by CF typically require lifelong monitoring, care, and treatment by a multidisciplinary team of healthcare providers.

Many new therapies called CFTR modulators are available for people with certain genetic mutations and have been shown to be extremely effective at alleviating symptoms and improving both the quality and length of life. These modulators work by targeting the defective CFTR protein and enhancing its function.

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How is cystic fibrosis inherited?

Similar to other recessive conditions, cystic fibrosis is inherited from parents who are carriers of cystic fibrosis or affected themselves. Since carriers often do not show symptoms, expecting parents can consider carrier screening to understand their carrier status. Carrier screening and additional testing can also help predict the type and severity of symptoms of an affected person.

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If both parents are carriers in each pregnancy there is a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of inheriting no genetic changes that cause cystic fibrosis.

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Who should consider cystic fibrosis screening?

Carrier screening for cystic fibrosis, and other common recessive conditions, is recommended for all pregnant individuals or those considering pregnancy. With UNITY Screen (™), a single blood test can screen a pregnancy for all recommended chromosome and recessive conditions. By combining a carrier screen and single-gene NIPT into one test, you can learn if you are a carrier for cystic fibrosis and if your baby has a low risk or high risk of being affected. If your UNITY Screen (™) results show an increased risk for your baby to have cystic fibrosis, your healthcare provider can discuss additional genetic testing that can be completed before or after delivery.

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UNITY Screen (™) Carrier Screening & sgNIPT workflow

With UNITY Screen™, carrier screening is performed first to see if you’re a carrier for cystic fibrosis. If you're not a carrier for CF, the chance your baby is affected is extremely low. If you are found to be a carrier, the second step is to assess your baby's risk for CF. All it takes is a blood sample after 10 weeks in pregnancy.

Consult
The UNITY Screen™ NIPT is ordered through your healthcare provider. You can schedule a complimentary genetic counseling session to answer any questions about the test before or after your blood is drawn.

Test: As early as week 9
Your blood sample can be collected in the doctor’s office, at a local lab, or through our mobile services. Your blood sample is shipped to our CAP/CLIA certified laboratory in northern California.

aneuploidy NIPT + fetal antigen results: As early as week 10
Within about one week from lab receipt, your doctor will receive the baby’s risk score for aneuploidies (chromosome conditions) and fetal antigens (if added). You will receive a text or email indicating your results are available on our portal, or your healthcare provider may call you with the results.

carrier status + single-gene NIPT results: As early as week 11
Within about two weeks from lab receipt, your doctor will receive the results of your maternal carrier status testing and single-gene NIPT. If you were found to be a carrier for any of the recessive conditions, single-gene NIPT is automatically run to determine your baby’s risk of being affected. You will receive a text or email indicating your results are available on our portal, or your healthcare provider may call you with the results.

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What do cystic fibrosis screening results mean?

Your UNITY Screen (™) results will show if you are a carrier for cystic fibrosis (“positive carrier”) and if single-gene NIPT was performed, will show the risk for your baby to be affected with cystic fibrosis. The fetal results are reported as “low or decreased risk” or “increased or high risk”. If your results show an increased or high risk for cystic fibrosis, there are additional tests that would be recommended to understand more about the specific type of cystic fibrosis, expected symptoms, and your baby’s risk. While highly accurate, UNITY Screen (™) results are not diagnostic, so your provider will discuss next steps and recommended testing that can be completed before birth or after delivery. 

• Before Birth: Testing during pregnancy can be performed by obtaining a sample of placenta (chorionic villus sampling or CVS) or fluid around your baby (amniocentesis) which both contain DNA that is representative of your baby.  A CVS is ideally performed between 10 to 13 weeks in pregnancy while an amniocentesis is typically performed between 15 to 24 weeks in pregnancy.  Both procedures are generally safe, but have a small risk for pregnancy complications, including miscarriage.
• ‍After Birth: Testing for your baby can be performed after birth through a blood test.  In addition, all babies born in a hospital in the United States are automatically screened for cystic fibrosis. The majority of babies with cystic fibrosis will be diagnosed through this screening process. In rare cases of cystic fibrosis, or in some cases of CFTR-related disorders, a diagnosis may be missed or a baby is incorrectly diagnosed.

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Frequently Asked Questions

What are the treatment options for cystic fibrosis?

Treatment for cystic fibrosis focuses on managing symptoms and preventing complications. Common treatments include airway clearance techniques, inhaled medicines to open airways or thin mucus, and antibiotics to treat lung infections. Nutritional support, such as pancreatic enzyme supplements and a high-calorie diet, is crucial for maintaining proper growth and nutrition. For some individuals, CFTR modulators can help improve the function of the defective CFTR protein.

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How can cystic fibrosis affect pregnancy and childbirth?

Women with cystic fibrosis can have healthy pregnancies, but they may face certain challenges. Pregnancy can put additional strain on the lungs and nutritional status, so careful monitoring and management by a healthcare team familiar with your cystic fibrosis team is important. It’s crucial to maintain good lung function and nutritional health before and during pregnancy. Some women with CF may experience reduced fertility, but assisted reproductive technologies can help. Proper prenatal care is essential to ensure the health of both the mother and the baby.

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What is the difference between "classic" cystic fibrosis and CFTR-related disorders?

"Classic" cystic fibrosis is characterized by severe symptoms such as chronic lung infections, pancreatic insufficiency, and elevated sweat chloride levels. It results from mutations in both copies of the CFTR gene that severely disrupt the function of the CFTR protein. CFTR-related disorders on the other hand, involve milder or atypical symptoms and are associated with less severe mutations in the CFTR gene. Individuals with CFTR-related disorders may have issues such as recurrent pancreatitis, sinusitis, or male infertility, but do not meet the full diagnostic criteria for classic cystic fibrosis.

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Emerging Treatments & Links

• Cystic Fibrosis Foundation: https://www.cff.org/
• Cystic Fibrosis Research Inc: http://cfri.org/‍
• Cystic Fibrosis Foundation: CFTR Modulator Therapies: https://www.cff.org/managing-cf/cftr-modulator-therapies