Premarital spinal muscular atrophy screening program results from a province in the Black Sea region of Turkiye: Two years of experience

Objective Spinal muscular atrophy (SMA) is a life-shortening autosomal recessive neuromuscular disease. In this study, the aim was to determine the use of premarital SMA carrier screening and the frequency of SMA carriers in this population. Study Design: The Premarital National SMA Carrier Screening Program was applied to 19,988 people between 27 December 2021 and 31 May 2024. Result A total of 453 people were found to be SMA carriers with heterozygote deletions in exon 7 of SMN1, indicating a carrier prevalence of approximately 1:44 (2.26%) in the population. After detailed genetic counseling, 441 partners were tested, and 13 were identified as SMA carriers. These couples were given information about preimplantation genetic diagnosis, and the birth of infants affected by SMA disease was prevented. Conclusion In our experience with carrier screening, awareness of premarital SMA carrier screening can be effectively maximized.