title: In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Hutzel Hospital, Wayne State University, Detroit, MI 48201.
authors.forename: M I
authors.initials: MI
authors.lastname: Evans
authors.forename: A
authors.initials: A
authors.lastname: Greb
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
authors.forename: A J
authors.initials: AJ
authors.lastname: Sacks
authors.forename: M P
authors.initials: MP
authors.lastname: Johnson
authors.forename: C
authors.initials: C
authors.lastname: Boehm
authors.forename: H H
authors.initials: HH
authors.lastname: Kazazian
authors.forename: E P
authors.initials: EP
authors.lastname: Hoffman
mesh_terms: D000328:Adult; D001706:Biopsy; D004247:DNA / Q000032:analysis; D016189:Dystrophin / Q000032:analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
chemical_list: D016189:Dystrophin; D004247:DNA