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

## TL;DR

A premarital screening program in northern Türkiye successfully reduced the risk of spinal muscular atrophy by identifying carriers and providing genetic counseling.

## Contribution

The study evaluates the real-world application of a national SMA carrier screening program and its impact on preventing affected births.

## Key findings

- Carrier prevalence was 2.26% with a screening uptake rate of 87.9%.
- Seven couples identified as dual carriers were referred for preimplantation genetic diagnosis.
- The program is effective in populations with high consanguinity rates.

## Abstract

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.

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.

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.

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.