Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

Yoram Nevo, Ruth Shomrat, Yuval Yaron, Avi Orr-Urtreger, Shaul Harel, Cyril Legum

Research output: Contribution to journalArticlepeer-review


Duchenne muscular dystrophy (DMD) is a relentless progressive disorder, leading to severe disability during childhood and death in adolescence or early adulthood. In most families, prenatal diagnosis is readily achieved by molecular detection of DNA deletions using chorionic villi or amniocytes, or by linkage analysis. In some cases, however, molecular methods fail to provide a definitive diagnosis and in such cases in utero fetal muscle biopsy may serve as a diagnostic option. We describe three families in whom fetal muscle biopsy was performed, focusing on the prenatal diagnostic dilemmas, the indications and timing for in utero fetal muscle biopsy, and the difficulties encountered.

Original languageEnglish
Pages (from-to)921-926
Number of pages6
JournalPrenatal Diagnosis
Issue number10
StatePublished - 1999


  • Duchenne muscular dystrophy
  • Fetal muscle biopsy
  • Prenatal diagnosis


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