Cystic Fibrosis horizon matera carrier screen | What is Cystic Fibrosis? Cystic Fibrosis (CF) is a condition that causes problems with how the lungs, digestive system, and other parts, of the body function. People with CF have delayed growth because of difficulties in digestion and recurrent lung infections that lead to permanent lung damage. Children and adults with GF usually experience frequent hospitalizations because of the lung infections and, ultimately, complications of CF can lead to early death. ‘There are treatments for CF that can help lessen the severity of the symptoms but, as of yet, there is no cure. CF does not affect inteligence. Approximately 30,000 children and adults in the United States (70,000 worldwide) have CF’. What causes CF? CF is caused by a gene change (or mutation) in both ‘copies of the CFTR gene, which causes both genes to, function improperly or not function at all, The CF gene pai is responsible for moving salt (sodium chloride) in and out of our cells. When this pair of genes does not work propery, it causes mucus and other body secretions to be thick and sticky. How is CF inherited? CF is inherited in an autosomal recessive manner, ‘meaning both parents must be carriers of CF for the disorder to occur in their children. People who are carriers are typically healthy and do not have OF. In general, every child inherits two copies of each gene, one from their AUTOSOMAL RECESSIVE DISEASES cartier Cartier 25% Unatfected 50% Carers 25% Affected mother and one from their father. f both partners are found to be CF carriers there is a 1 in 4, or 25%, chance In each pregnancy to have a child who inherits both CF mutations and is affected with CF. There is a3 in 4, or 75%, chance in each pregnancy that the child will NOT. have CF. Boys and girls have an equal chance of being affected with CF Why screen for CF? Genetic carrier screening is a test that can determine if you are a carrier for CF. Carriers are typically healthy and have no symptoms, but have an increased chance cof having a child with OF, Carrier screening can help determine if you and your partner are at increased risk to have a child with CF. Different family planning options are available to you depending on when you decide to have carrer screening Is CF carrier screening right for you? | Anyone planning a pregnancy or who is currently pregnant can choose to have CF carrier screening, Multiple medical associations including the American College of Medical Genetics (ACMG), American Congress of Obstetricians and Gynecologists (ACOG), and the National Institutes of Health (NIH) recommend that couples be given the option of carrer screening for CF What if we do not have CF in our family? With autosomal recessive conditions like CF, the mutation (gone change) can be passed on for generations without having a child with CF. Most people only become aware that they are OF carriers after having a child with OF or through CF cartier screening. About one in every 25 people (4%) of Caucasian and Ashkenazi Jewish descent | are CF carriers, and people of other ethnicities can be carriers as well. Many different mutations have been identified in the GF gene. Horizon's CF screening panel detects many of the most frequently ocourring mutations in the CF gene. |HOR PTCYETOFB FACTEHEET 14/16) NAT C0001 Cystic Fibrosis How common is it to be a carrier for CF? Carrier frequencies by ethnicity are below:" * Ashkenazi Jewish - 1 in 24 * Caucasian - 1 in 25 ‘* Hispanic - 1 in 46 * African-American - 1 in 65 # Asian - 1 in 94 How is carrier screening performed? Carter screening requires a simple blood draw or saliva sample and a referral form completed by your physician. Results are typically returned within two weeks. Can my baby still have CF if | screen negative? A negative (normal) result means we did not find any of the CF mutations screened for by Horizon, and you have a significantly reduced chance of having a child with CF. However, a limitation of all carrier screening is that it cannot detect all possible gene mutations that could be present. Horizon carrier screen is designed to detect the pat of the Natera fami of products @natera Conceive, Deliver Grenorama 8 horizon Jes horizon natera carrier screen ay most common mutations in the GF gene. However, a person may have a rare mutation in the OF gene that is not detected by cartier screening. Your test results will provide the ‘residual risk” or the small remaining chance that you are still a carrier for CF despite a negative test result What if we are both CF carriers? Finding out you are carriers for OF can be distressing and we encourage you to make an appointment to talk with a local genetic counselor about your results. We cannot change our genes — but having this information gives you more control over your reproductive options. Here are some different reproductive options that can be considered: * Conceive naturally + Prenatal testing ‘In Vitro Fertilization (IVF) with Preimplantation Gonetic Diagnosis (PED) * Conceive with donor sperm or egas * Choose to adopt * Choose not to have children ee Opn Nur 420, Ai 2011: don Carr Sern fr Oats Fe : T pectrum | @ anore: 201 inustil Road, Sute 410 | San Caros, CA 92070 | waw.natrecom | 1-650-249-0000 | Fax 1-650-790-2072 “Tha forts deacbed have been devloned an tek perfomance chiractracadetrined by the ts nboratory, Thay rave not (© Natoa 2015. A ight Raserved n clowred er approved by the U.S. Food ard Dug amination FFA).