Abstract
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by mutations in the SMN1 gene, leading to progressive muscle weakness. The global incidence of SMA is approximately 1–3 per 10,000 live births, and the carrier frequency of SMN1 gene mutations is estimated to be about 1 in 50 individuals. In response to increasing carrier rates, especially due to consanguineous marriages, Turkey launched the SMA Carrier Screening Program in 2021. Considering that recent SMA cases have emerged among healthcare workers, we aimed to evaluate their awareness of this program. After receiving ethics approval, 1,322 healthcare professionals completed a 15-item survey based on the SMA Carrier Screening Guidelines. Of these, 5.8% were unaware of SMA, and 26% lacked information about the national screening program. Awareness of the screening program was significantly lower among secondary and tertiary healthcare professionals compared to primary healthcare professionals (p < 0.0001), and among non-physician healthcare professionals compared to physician (p < 0.0001). Additionally, a serious lack of information was observed concerning the parts of the screening covering the pregnancy period. Although there is generally high awareness of the SMA Carrier Screening Program among healthcare professionals, significant knowledge gaps exist. These findings highlight the need for increased efforts to more effectively deliver screening programs and continue the education of healthcare professionals. Education and awareness campaigns can enhance program awareness and effectiveness, reach wider audiences, and contribute to preventive measures for the health of future generations.