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

Mark I. Evans, Anne Greb, Louis M. Kunkel, Alan J. Sacks, Mark P. Johnson, Corinne Boehm, Haig H. Kazazian, Eric P. Hoffman

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)728-732
Number of pages5
JournalAmerican journal of obstetrics and gynecology
Issue number3
StatePublished - Sep 1991


  • Duchenne muscular dystrophy
  • in utero muscle biopsy
  • prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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