On the road to getting pregnant and even early in pregnancy, getting your blood drawn is an all too familiar process. Checking for this. Monitoring for that. Though all of these tests are important to evaluate your fertility or check on a pregnancy, at some point you wonder, “do I really need all of these tests?”
And then carrier screening comes up. Testing to see if you are a carrier of a recessive genetic disorder that could be passed on to your kids. You think, “no one in my family has cystic fibrosis” or “I’ve never heard of fragile X syndrome” – “Finally a test that I don’t need to do!”
But before you check the box to decline carrier screening, consider this: about 80% of babies with cystic fibrosis (CF), a chronic multisystem disease with a shortened life expectancy, are born into families where no one has the disease. The same is true for a disorder called spinal muscular atrophy (SMA), which causes severe muscle deterioration and death in early childhood.
These disorders are recessive, which means in order to be affected a child must inherit one mutation, or non-working copy of the gene, from each carrier parent. As a carrier, these parents would not have any symptoms related to the disorder they carry, but when a child inherits two mutations, they will have the disease.
No testing is perfect, so carrier screening cannot guarantee the birth of a healthy child. However, it can provide significant reassurance that you are not at increased risk to have a child with a common, severe genetic disorder. That is why carrier screening is recommended for all women of reproductive age by the American Congress of Obstetricians and Gynecologists – the same organization that recommends annual cervical cancer screening (via Pap tests) and taking folic acid prior to and during pregnancy to reduce the risk of some birth defects.
To learn more about carrier screening, ask your doctor or talk with a genetic counselor to help decide if this testing is right for you. You may also find this video to be an informative introduction to carrier screening: http://youtu.be/w4F-3iJcwsI
Jocelyn Davie has been in the field of genetics since receiving her BS in Genetics form the University of California, Davis. After receiving her receiving her masters in genetic counseling from Boston University, she joined Good Start Genetics as a certified genetic counselor. She has played many roles with the company, from internal development prior to launch of their test, to marketing, sales, and is currently a clinical sales liaison based out of California. In this role, she not only counsels patients about their carrier screening test results and reproductive risks, she also travels and provides education to physicians and nurses to help promote education in the field.