Prenatal diagnosis of Duchenne muscular dystrophy

Background. Duchenne muscular dystrophy (DMD) is one of the most common X-l inked genetic disorders seen In children. Mutations in the DMD gene coding for the protein dystrophin causes the severe muscle-wasting disorder leadin g to death In the second decade of life. In the absence of a cure, prenatal diagnosis (PND) appears to be the best approach to reduce the burden of th is disease on the individual family and ultimately on society, There are fe w published reports worldwide on PND and very few from the developing count ries, We report our experience with PND for families with DMD using multipl ex polymerase chain reaction (PCR) and microsatellite polymorphic marker an alysis. Methods. From August 1997 to October 1999, PND was offered on request to 23 families with one or two boys affected with DMD, A total of 26 foetuses we re screened for DMD, Initially the deletions in the DMD gene in the affecte d child were identified by multiplex PCR screening for 23 exons In 6 sets. In patients where deletions were not identified, microsatellite repeat anal ysis was carried out to follow the inheritance of the mutant allele. DNA wa s extracted from chorionic villus samples obtained by chorionic villus biop sy performed at 10-15 weeks of gestation in 17 families, and at 16-20 weeks in 6 families. Results. Deletions were identified In 20 affected boys. In 2 families, micr osatellite repeat analysis was done to Identify the mutant allele. Of the 2 6 foetuses, 5 were found to be affected with DMD and the parents opted for termination of pregnancies. Conclusions. Multiplex PCR technology and microsatellite repeat analysis ca n be used effectively for PND of DMD.