Genetic counseling, prenatal diagnosis and newborn screening in Duchenne muscular dystrophy

Genetic counseling is a communication process in which qualified professionals help individuals to understand and consider the medical, psychosocial, and family implications of a disease. In the case of Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting X-linked disease, genetic counseling can help to diagnose female carriers, assess the risks for offspring, and discuss the various possibilities for having an unaffected son. Invasive prenatal diagnosis is usually offered to at-risk couples, but preimplantation diagnosis is also an option. Noninvasive diagnosis, based on the presence of fetal DNA in maternal blood, is developing rapidly and will further reduce the emotional and logistical burden associated with invasive approaches. Finally, various programs around the world are focusing on newborn screening for DMD, enabling children at risk of developing the most commonand severe form of childhood muscular dystrophy to be screened at birth.