S. Heckel et al., In utero fetal muscle biopsy: A precious aid for the prenatal diagnosis ofDuchenne muscular dystrophy, FETAL DIAGN, 14(3), 1999, pp. 127-132
Prenatal diagnosis for Duchenne muscular dystrophy can usually be performed
using DNA analysis. This approach would be impossible when there is only o
ne prior affected male and no identifiable gene deletion. Therefore, in ute
ro fetal thigh muscle biopsy with direct examination of muscle by dystrophi
n analysis may provide the only means of prenatal diagnosis. We report such
a case in which fetal muscle biopsy was able to exclude Duchenne muscular
dystrophy. A detailed literature review of the topic is provided.