From policy to practice: premarital spinal muscular atrophy screening as a public health initiative in northern Türkiye.

BACKGROUND

Spinal muscular atrophy (SMA) is a severe autosomal recessive neuromuscular disease and a major cause of infant mortality. Türkiye implemented a nationwide premarital SMA carrier screening program in 2021 to reduce disease incidence through early detection and genetic counseling.

METHODS

This study evaluates the application of the program in a northern province of Türkiye, covering 19,988 individuals screened between December 27, 2021, and May 31, 2024.

RESULTS

The carrier prevalence was 2.26% (1:44), and the screening uptake rate was 87.9%. Of 441 screened partners of identified carriers, 13 were also found to be carriers. Seven couples were confirmed as dual carriers and were referred for preimplantation genetic diagnosis (PGD), effectively preventing the birth of affected children.

CONCLUSION

The findings demonstrate the value of premarital screening in populations with high consanguinity rates. The study supports the integration of accessible, socially informed screening practices and highlights the need for further data collection, expanded carrier panels, and enhanced public awareness in Türkiye.