Expanded carrier screening tests are called “expanded” because they look for an increased risk of more than 100 genetic conditions including Cystic Fibrosis, Tay Sachs and Sickle Cell Disease. They also can detect Fragile X Syndrome, the most common inherited form of intellectual disability and autism, as well as Spinal Muscular Atrophy, the most common cause of death from a recessive genetic disease in infants.
By testing your blood and sometimes your saliva, your doctor can check if you carry genes that could increase your baby’s risk of having a recessive genetic disorder. Expanded carrier screening tests can be performed either before you become pregnant or any time during your pregnancy.