What does "carrier" mean here?

ACOG explains that having one healthy SMN1 copy generally means the other copy is not working, which makes a person a carrier. Carriers are usually healthy.

If I am a carrier, what is the risk to a child?

ACOG states that if both partners are carriers, the chance of an affected child is about 1 in 4. A genetic counselor can explain risk for a specific couple.

Can the screen miss carriers?

Yes. A small residual risk can remain because rare variants may not be detected.

Genetic and Carrier Screening

Spinal Muscular Atrophy (SMA) Carrier Screen

A blood test that measures SMN1 gene copy number to assess carrier status for spinal muscular atrophy.