DNA diagnostic tests in Xp21 dystrophy families for prenatal diagnosis

Duchenne and Becker muscular dystrophies are X-linked genetic disorders characterized by dystrophin gene defects. We have studied 250 families with Duchenne and Becker muscular dystrophies (D/BMD) by molecular genetic methods since 1992. Nineteen exons of the dystrophin gene were analyzed for deletion. In families with no deletion, linkage analysis was performed to follow the inheritance of mutant alleles in the affected families. Twenty of these families requested prenatal diagnosis. Six mothers were found to be non-carriers (99% accuracy), thus fetuses were examined in the remaining 14. Two fetuses were affected and terminated. We report our experience and our current clinical practice in providing prenatal studies for D/BMD.