In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy

M. I. Evans, E. L. Krivchenia, M. P. Johnson, R. A. Ouintero, M. King, E. Pegoraro, E. P. Hoffman

Research output: Contribution to journalArticle

5 Citations (Scopus)

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

Fingerprint

Duchenne Muscular Dystrophy
Dystrophin
Biopsy
Muscles
Staining and Labeling
faropenem medoxomil
Pregnancy
X Chromosome
Prenatal Diagnosis
Nuclear Family
Counseling
Siblings
Fetus

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. L., Johnson, M. P., Ouintero, R. A., King, M., 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.

In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. / Evans, M. I.; Krivchenia, E. L.; Johnson, M. P.; Ouintero, R. A.; King, M.; Pegoraro, E.; Hoffman, E. P.

In: Fetal Diagnosis and Therapy, Vol. 10, No. 2, 01.01.1995, p. 71-75.

Research output: Contribution to journalArticle

Evans, MI, Krivchenia, EL, Johnson, MP, Ouintero, RA, King, M, Pegoraro, E & Hoffman, EP 1995, 'In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy', Fetal Diagnosis and Therapy, vol. 10, no. 2, pp. 71-75.
Evans MI, Krivchenia EL, Johnson MP, Ouintero RA, King M, Pegoraro E et al. In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. Fetal Diagnosis and Therapy. 1995 Jan 1;10(2):71-75.
Evans, M. I. ; Krivchenia, E. L. ; Johnson, M. P. ; Ouintero, R. A. ; King, M. ; Pegoraro, E. ; Hoffman, E. P. / In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. In: Fetal Diagnosis and Therapy. 1995 ; Vol. 10, No. 2. pp. 71-75.
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