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 Kazazian, Eric P. Hoffman

Research output: Contribution to journal › Article

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.

Original languageEnglish (US)
Pages (from-to)728-732
Number of pages5
JournalAmerican Journal of Obstetrics and Gynecology
Volume165
Issue number3
DOIs
StatePublished - 1991

Fingerprint

Duchenne Muscular Dystrophy
Fetus
Biopsy
Muscles
Dystrophin
DNA
Prenatal Diagnosis

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)
  • Obstetrics and Gynecology

Cite this

Evans, M. I., Greb, A., Kunkel, L. M., Sacks, A. J., Johnson, M. P., Boehm, C., ... Hoffman, E. P. (1991). In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. American Journal of Obstetrics and Gynecology, 165(3), 728-732. https://doi.org/10.1016/0002-9378(91)90318-L

In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. / Evans, Mark I.; Greb, Anne; Kunkel, Louis M.; Sacks, Alan J.; Johnson, Mark P.; Boehm, Corinne; Kazazian, Haig; Hoffman, Eric P.

In: American Journal of Obstetrics and Gynecology, Vol. 165, No. 3, 1991, p. 728-732.

Research output: Contribution to journal › Article

Evans, MI, Greb, A, Kunkel, LM, Sacks, AJ, Johnson, MP, Boehm, C, Kazazian, H & Hoffman, EP 1991, 'In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy', American Journal of Obstetrics and Gynecology, vol. 165, no. 3, pp. 728-732. https://doi.org/10.1016/0002-9378(91)90318-L
Evans MI, Greb A, Kunkel LM, Sacks AJ, Johnson MP, Boehm C et al. In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. American Journal of Obstetrics and Gynecology. 1991;165(3):728-732. https://doi.org/10.1016/0002-9378(91)90318-L
Evans, Mark I. ; Greb, Anne ; Kunkel, Louis M. ; Sacks, Alan J. ; Johnson, Mark P. ; Boehm, Corinne ; Kazazian, Haig ; Hoffman, Eric P. / In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. In: American Journal of Obstetrics and Gynecology. 1991 ; Vol. 165, No. 3. pp. 728-732.
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