Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges.
Gal CohenAtalia Shtorch-AsorShay Ben-ShacharRacheli Goldfarb-YaacobiMeirav KaiserRevital RosenfeldMika VinovezkyDana IrgeYael FurmanDafni ReissShira Litz-PhilipsbornRivka Sukenik HalevyPublished in: Prenatal diagnosis (2022)
Population screening for DMD has a significant yield. Most carriers did not report a family history of dystrophinopathies. Screening should be adjusted for methodological limitations. Some cases may require extensive genetic counseling and work-up.