Are You An SMA Carrier?May 01, 2011 by Victoria
Are You An SMA Carrier? It is simple to learn if you are 1 in 40. A simple blood or saliva test will determine if you are a carrier of SMA. Both parents must be carriers for the baby to have the active form of SMA. Currently SMA is not a standard test and you must request this test from your doctor. Ideally, carrier testing should be done before pregnancy to provide the widest array of options for prevention.
Why Is Carrier Screening Important? The American College of Medical Genetics (ACMG) recommends that all adults of reproductive age who are planning to conceive be offered carrier testing for Spinal Muscular Atrophy. Why does ACMG recommend this? –> 1 in every 40 people UNKNOWINGLY carry the SMA gene. Most have NO family history of the disease and NO signs during pregnancy. 1 in 40!
- That’s one person in every Starbucks.
- That’s 10 people on every jumbo jet.
- That’s nearly 20 Million people on Facebook.
- That’s nearly 175 Million people around the globe.
- And one of those could be you.
If you and your partner are carriers of the SMA gene, every pregnancy — EVERY SINGLE PREGNANCY — has a 25% risk of having the disease. So even if you already have one…two…five healthy children, you can still have a baby with SMA.
Ask Your Doctor. SMA is not currently a standard test in most obstetrician practices. Talk to your doctor and let them know you want to know if you are an SMA carrier. Because SMA is an autosomal recessive disease, BOTH parents need to be carriers for the active form of the disease to be passed down. But only ONE parent has to be a carrier to pass carrier status on to children. Most major insurers cover preventive genetic testing.
What Are The Options To Prevent SMA? If SMA testing shows both parents are carriers, speak with your doctor to fully understand all of your options. There are several choices couples can make to prevent SMA: IVF with PGD (in vitro fertilization using Preimplantation Genetic Diagnosis); use donor sperm or donor eggs; have prenatal testing, such as CVS early in pregnancy; adoption.
Carrier Screening Resources >>
Counsyl offers a blood or saliva-based test which screens for 100+ serious genetic diseases, including spinal muscular atrophy. The test will cost no more than $99 with insurance or $349 without insurance. This is the most cost effective option to screen for 100+ genetic diseases. Tell your OBGYN that you specifically want the Counsyl test so they can register their practice. Results will be emailed to you within two weeks.
Many different labs offer a single Spinal Muscular Atorphy carrier test that can be ordered by your OBGYN. This is a simple blood test taken at your local lab and shipped to the specific testing sites across the country. Results will be returned to your OBGYN within two weeks. The cost will vary depending on your insurance. Be sure to speak with your insurance beforehand about the out of pocket expense as the cost can be up to $1,000. Contact Quest Diognostics/Athena, LabCorps/Genzyme, or The Molecular Pathology Labratory to learn more.
Claire Altman Heine Foundaiton is dedicated to SMA carrier screening.
Want more in depth information about SMA? Click HERE.