Turk J Med Sci. 2025 Dec 28;56(1):351-363. doi: 10.55730/1300-0144.6169. eCollection 2026.
ABSTRACT
BACKGROUND/AIM: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder with high treatment costs and significant psychosocial burden. In 2021, Türkiye launched a national premarital SMA carrier screening program integrated with in vitro fertilization (IVF) with preimplantation genetic testing (PGT) services for couples identified as carriers. This study aimed to compare the costs associated with the carrier screening and prevention program versus a no-screening (treatment-only) scenario.
MATERIALS AND METHODS: A cost comparison model was developed using data from the Turkish Statistical Institute, the Ministry of Health, and the Social Security Institution. The annual costs of SMA treatment (with nusinersen and risdiplam) and the costs associated with carrier screening, genetic counseling, and IVF with PGT were compared. Projections estimated 115 new SMA cases annually based on national birth rates and carrier frequencies.
RESULTS: The total annual cost of the premarital carrier screening and prevention program was estimated at TRY 112,801,201.6 (EUR 2,418,550.6). In contrast, the treatment of 115 new cases of SMA with nusinersen would cost TRY 1,091,623,700 in the first year alone, reaching a cumulative cost of TRY 2,183,247,377 over three years. The three-year cumulative cost for risdiplam treatment was calculated as TRY 1,196,414,795. The cost of preventing the birth of one SMA-affected child through the screening program was estimated as TRY 854,554.6, whereas treatment costs per child reached as high as TRY 18,984,759.6 with nusinersen.
CONCLUSION: The SMA premarital carrier screening and prevention program in Türkiye significantly reduces healthcare expenditures and disease burden. Primary prevention through carrier screening is associated with lower overall costs than long-term treatment, offering both economic and social advantages for public health policy.
PMID:41816748 | PMC:PMC12974293 | DOI:10.55730/1300-0144.6169
