The effects of genetic counselling in Duchenne muscular dystrophy.

The results of a follow-up study are presented of 53 women referred for genetic counselling between 1965 and 1969 in families with Duchenne muscular dystrophy. On the basis of pedigree data and serum levels of creatine kinase, 41 were considered to be at high risk (greater than 1 in 10), 5 at medium risk (1 in 10 to 1 in 20), and 7 at low risk (less than 1 in 20) of having an affected son or carrier daughter. In the high risk group only two were undeterred from pregnancy but one of these has subsequently been sterilized, two opted for selective abortion. Four women at high risk of having an affected son were actually pregnant at the time they were referred for counselling. The need for expert contraceptive advice is emphasized and follow-up of such families proved important for support and to discuss developments such as selective abortion.