Where can I find information on carrier screening for SMA?
A carrier of SMA is someone who has one defective copy of the SMN1 gene and one normal SMN1 copy. About 1 in 35 Americans is a carrier of SMA. SMA carriers do not experience the symptoms of the disease because their single, normal SMN1 copy is enough to make all SMN protein the body needs. However, if two carriers of SMA have a child together, there is a 1 in 4 chance that the child will inherit a defective copy of SMN1 from both parents and will have SMA. Carrier screening is a type of genetic testing that couples may chose to take if they want to find out whether they have certain deletions or mutations that cause some autosomal recessive diseases, such as SMA. In about 97% of cases, carrier screening can determine if someone is a carrier of SMA. Individuals and couples considering carrier screening for SMA, may find it helpful to talk with an obstetrician/gynecologist or a genetic counselor to gather more information. Genetic counselors in your area can be located through the Nation
