In utero fetal muscle biopsy alters diagnosis and carrier risks in duchenne and becker muscular dystrophy

Mark I. Evans, Ericl Krivchenia, Mark P. Johnson, Ruben A. Quintero, Aary King, Elena Pegoraro, Eric P. Hoffman

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Objectives: We have previously shown that Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. In Becker muscular dystrophy (BMD), there is a variable dystrophin staining pattern. Study design: A 26-year-old, gravida 5, para 1, SAB 2, VIP 1, white female had a son with the diagnosis of BMD, with no other affected family members. In the current pregnancy, the male fetus inherited the same X chromosome. Results: Fetal muscle biopsy revealed no dystrophin, consistent with the diagnosis of DMD, prompting re-analysis of the sibling whose diagnosis was then changed to DMD. Conclusions: Molecular techniques in prenatal diagnosis in this case not only led to the diagnosis of a severe disorder in the current pregnancy, but changed the diagnosis in another child, allowing for more appropriate counseling of this couple.

Original languageEnglish (US)
Pages (from-to)71-75
Number of pages5
JournalFetal Diagnosis and Therapy
Volume10
Issue number2
DOIs
StatePublished - Jan 1 1995

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Keywords

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • In utero fetal muscle biopsy
  • Molecular analysis
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Pediatrics, Perinatology, and Child Health

Cite this

Evans, M. I., Krivchenia, E., Johnson, M. P., Quintero, R. A., King, A., Pegoraro, E., & Hoffman, E. P. (1995). In utero fetal muscle biopsy alters diagnosis and carrier risks in duchenne and becker muscular dystrophy. Fetal Diagnosis and Therapy, 10(2), 71-75. https://doi.org/10.1159/000264206