In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.

Abstract

Deoxyribonucleic acid techniques can be used to diagnose Duchenne muscular dystrophy prenatally in male fetuses that are at risk. Deoxyribonucleic acid-based prenatal diagnosis can be impossible when there is only one prior affected male and there is no identifiable deletion or alteration. We performed fetal muscle biopsy in utero in such a case and documented the presence of dystrophin, thereby confirming normality in a male fetus at risk. This first in utero experience adds fetal muscle biopsy to the available procedures for fetal tissue diagnosis.

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@article{Evans1991InUF, title={In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.}, author={Mark I Evans and Anne E. Greb and Louis M. Kunkel and Alan J Sacks and Mark Paul Johnson and Corinne D. Boehm and Haig H. Kazazian and Eric P. Hoffman}, journal={American journal of obstetrics and gynecology}, year={1991}, volume={165 3}, pages={728-32} }