Duchenne muscular dystrophy immunohistochemistry of foetal muscles

Between 1989 and 1991, we realized 36 prenatal DNA diagnoses in 23 families at risk for Duchenne muscular dystrophy (DMD). The families were previously analyzed using multiplex polymerase chain reaction (PCR) analysis, Southern blot hybridization with cDNA markers, pulse field gel electrophoresis (PFGE) and linkage studies with polymorphic DNA markers. Eighteen male foetuses were examined and seven were found to be affected. Immunohistochemistry (IHC) of muscle tissue was realized after abortion in four foetuses aged 12 to 22 weeks. Three age-matched controls were used. Poly- and monoclonal antibodies against different epitopes of dystrophin were used. A polyclonal spectrin antibody was utilized to check for membrane integrity. DNA analysis of chorion villi had demonstrated an out of frame deletion in all four foetuses, later confirmed on abortion material. The different epitopes of dystrophin were absent on immunohistochemical sections while they were present in control cases. Spectrin was present in patients as well as in controls. IHC can be used to confirm the results of DNA diagnosis of DMD in foetuses.