Prenatal diagnosis of Duchenne muscular dystrophy.

Ihckground. Duchennemuscular dystrophy (DMD) is one of the most common X-linked geneticdisordersseenIn children. Mutations in the DMD gene coding for the protein dystrophln causesthe severemuscle-wastingdisorder leadingto death in the seconddecadeof life. In the absenceof a cure, prenataldiagnosis (PND) appearsto be the bestapproachto reduce the burden of this diseaseon the individual family and ultimately on society. There are few publishedreportsworldwide on PND and very few from the developing countries. We report our experiencewith PND for families with DMD using multiplex polymerase chain reaction (peR) and microsatellite polymorphic marker analysis. Methods. From August 1997 to October 1999, PND was . offered on requestto 23 familieswith one or two boys affected with DMD. A total of 26 foetuseswere screened for DMD. Initially the deletionsin the DMD genein the affected child were identified by multiplex peR screeningfor 23 exonsin 6 sets. In patientswhere deletionswere not identified, microsatelliterepeat analysiswas carried out to follow the inheritance of the mutant allele.DNA wasextracted from chorionic villussamplesobtained by chorionic villusbiopsyperformed at 10- 15 weeksof gestation in 17 families, and at 16-20 weeksin 6 families. Results. Deletionswere identified in 20 affected boys. In 2 families, microsatellite repeat analysiswas done to identify the mutant allele. Of the 26 foetuses,5 were found to be affected with DMD and the parentsopted for termination of pregnancies. Condusions. Multiplex peR technology and microsatellite repeat analysiscan be usedeffectively for PND of DMD. Nad Med J India 2000; 13: 129-31