[Genetic counseling and prenatal diagnosis in Duchenne myopathy: yesterday, today and tomorrow].
The coming of molecular biology has greatly modified the concept of genetic counselling and prenatal diagnosis of Duchenne muscular dystrophy. The most important stages of the genetic counselling are reported: estimate of the risk and carrier detection. This heterozygote detection is now possible in a few cases owing to polymorphic DNA markers recently identified that are genetically linked to the DMD gene locus and detected with probes. An analysis of foetal DNA is also possible and allows us to consider prenatal diagnosis of this affection. This study is yet limited by two impediments: on one hand low rate of informative families, on the other hand use of markers that are not very closely linked to DMD involving recombinations and risks of errors. The solution of these problems is in the use of linked DNA markers with the best polymorphism flanking the Duchenne muscular dystrophy locus. Finally the authors report the necessity of strict collaboration systems between clinical experts, geneticists, biologists and informaticians.
D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
Le conseil génétique et le diagnostic prénatal dans la myopathie de Duchenne: hier, aujourd'hui et demain.