DNA- Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy

Progressive muscle wasting, which leads to severe disability and early death, make Duchenne and Becker muscular dystrophies (DMD/BMD) highly distressing disorders to both patient and family. Diagnosis in pregnancy, therefore, is frequently considered by couples in which the woman has a family history of either disorder. However, prenatal diagnosis is not always straightforward. It is frequently complicated by the high new mutation rate associated with the dystrophin gene, and, related to this, the high incidence of mosaicism in the germline. In addition, family structure is not always ideal, because samples from vital members may be unavailable.