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[Prenatal diagnosis of Duchenne's muscular dystrophy fetus at risk]
Insights
Prenatal diagnosis of Duchenne muscular dystrophy (DMD) used multiplex PCR to identify gene deletions in at-risk fetuses. This method accurately detected mutations, aiding in early diagnosis and family planning for DMD.
Area of Science:
- Genetics
- Molecular Biology
- Medical Diagnostics
Abstract:
Prenatal diagnosis of Duchenne's muscular dystrophy (DMD) have been carried out on 12 fetus at risk. The gene mutations have been identified by hybridization with cDNA probes and/or multiplex PCR. The fetus examined were 7 males and 3 females. Three of the male fetus inherited the same deleted mutations as the probands, and other 4 appeared normal. Among the 3 female fetus, one carried a deleted gene, two were considered normal. The diagnosis of the fetus were confirmed after birth or abortion. As the multiplex PCR can quickly detect about 98% of the deletions on the dystrophin gene, it is not only an idea method for screening the gene deletion but can also be applied to prenatal diagnosis immediately after the nature of the deletion have been identified among the probands. The strategy of prenatal diagnosis of DMD in our country was also discussed.