The recent ACMG guideline for SMA carrier screening17 recommends that since SMA is present in all populations, carrier testing should be offered to couples regardless of race or ethnicity who are pregnant or considering pregnancy. The results from this study provide precise estimates of allele frequencies and genotypes that vary significantly among ethnic groups. The implications of this work are most significant for Hispanic patients who carry lower risks of SMN1 mutations and for African American patients who bear increased frequencies of two-copy alleles. These data will facilitate the accurate interpretation of clinical testing results and provide additional information for genetic counselling.
