Genetic Counseling

**Genetic Counseling **

Affected individuals with SMA and their parents should be referred for genetic counseling, which may be challenging. Occasionally, carriers have normal dosage studies for the SMN1 deletion because they have a deletion on one homologue and a SMN1 gene duplication on the other. Studies in the extended family are usually required to clarify these situations. There is also a significant de novo mutation rate (1.7 percent).

The American College of Medical Genetics recommends offering carrier testing to all couples regardless of race or ethnicity. The American College of Obstetricians and Gynecologists (ACOG) recommends that screening for SMA should be offered to all women who are considering pregnancy or are currently pregnant.