natera carrier screen Spinal Muscular Atrophy horizon What is Spinal Muscular Atrophy? AUTOSOMAL RECESSIVE DISEASES ‘Spinal Muscular Atrophy (SMA) is @ serious childhood | condition that causes worsening muscle weakness, Carrier Cartier decreased abilty to breathe, and loss of motor skils. 2 2 Most children with SMA show symptoms in infancy and a many de betore te age of 2 years. Some cen th | SMA develop muscle weakness and other symptoms later jin childhood. SMA is a leading inherited cause of infant death occurs in about tn every 10,000 bts each p & D * year. SMA is sometimes referred to as a motor neuron 25% Unaffected 50% Carriers 25% Affected What causes SMA? Why screen for SMA? SMA is caused by a change, or mutation, in both copies Genetic cartier screening is a test that can tell how | of the SMI gene, which causes these genes to work likely it is that you are a carrier for SMA. Carriers are. improperly or not work at all. Children with SMA have typically heslthy and have no symptoms, but have an ‘two non-working copies of this gene. The SivNT gene increased chance to have a child with SMA, Carrier gives the body instructions for making a protein called the screening can help you find out if you are at increased survival motor neuron (SMN) protein. The SMN protein is risk to have a child with SMA. Different farily planning important for the health of special nerve calls called motor options may be available to you depending on your SMA neurons. Motor neurons control muscle movement. carrier screen results. | How is SMA inherited? Is SMA carrier screening right for you? ‘SMA is inherited in an autosomal recessive manner. Anyone planning a pregnanoy or who is currently pregnant | This means that, in most cases, both parents must be can choose to have SMA carrier screening. The American carriers of an SMNJ gene mutation to have a child with, College of Medical Genetics (ACMG) recommends that ‘SMA. People who are carriers are usually healthy and do couples be given the option of carrier screening for SMA. not have SMA, but have an increased chance of having a child with SMA. In general, every child inherits two copies What if we do not have SMA in our family? ‘of each gene, one from their mother and one from their With autosomal recessive conditions like SMA, the father, I both partners are found to be SMA carriers mutation (gene change) can be passed on for generations there is a 1 in 4, or 25%, chance in each pregnancy to without having a child with SMA. Most people only affected with SMA. There is a3 in 4, or 75%, chance in _child with SMA, or through SMA carrier screening. About have a child who inherits both SMA mutations and is become aware that they are SMA carriers after having a each pregnancy that the child will NOT have SMA. ‘one in every 47 people is a carrier for SMA.Spinal Muscular Atrophy horizon natera carrier screen How common is it to be a carrier for SMA? Carrier frequencies by ethnicity are below:'* © Ashkenazi Jewish - 1 in 41 * Caucasian - 1 in 35 ‘* Hispanic - 1 in 117 * African-American - 1 in 68 * Asian - 1 in 53 How is carrier screening performed? Carrer 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 SMA if | have a normal ‘SMA test result? ‘A normal (negative) result means you have at least two working copies of the SMI gene and you have a reduced chance to have a child with SMA. A small number of people with two copies of SMIV7 are stil carriers for SMA because both of their SIMN1 genes are on the same ‘chromosome while the other chromosome has zero SMT copies. This is known as being a “silent 2+0" carrier for ‘SMA. The Horizon carrier screen offers enhanced SMA 1 Sugarnan EA firs Hin Gant 2012202798 Pare car sag ard pre dagen sre musct 2. lin Meta Arka Jen SU Page Speke pon lees ease carer song sore | Sat Gente 25 soreening. This test looks for a certain genetic marker called a single nucleotide polymorphism (SNP) that is found more often when a person is a silent 2+0 carrier for SMA. If this SNP is found in Ashkenazi Jewish or Asian individuals, they are likely SMA carriers. Enhanced SMA screening can also help tell the chance that an individual of another ethnic group might stil be a carrier for SMA, What if we are both SMA carriers? Finding out you are both carriers for SMA 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 knowing this information gives you more control over your reproductive options. Couples at risk for having a baby with SMA can consider: * Netural pregnancy with or without prenatal diagnosis of the fetus for SMA | * Preimplantation genetic diagnosis (PGD) {nttp://www.natera.com/single-gene-testing) with in vitro fertiization (IVF) to test and then transfer embryos free of SMA * Adoption or use of a sperm or egg donor part of tho Natera anora @natera Conceive. Deliver, |S panorama] ff hoxzon | « spegtun | @ fai of reduc 20% Indust! Rod, Suite 410 | San Cares, CA 94070 1-950-240-9000 | Fax 1-660-730-2272 ‘he tests descrbad rave on developed ars tre perrmance charactarstesseternec by ha tet labeater “Tey nav ret been Seared a approved by re US. Food and Orig Adminstration FA 1 Natere 2015, al ighs Resor