title: Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy.
abstract: 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.
authors.affiliation: Institute for Child Development and Pediatric Neurology Unit, Dana Children's Hospital, Tel-Aviv, Israel. nevo@tasmc.health.gov.il
authors.forename: Y
authors.initials: Y
authors.lastname: Nevo
authors.forename: R
authors.initials: R
authors.lastname: Shomrat
authors.forename: Y
authors.initials: Y
authors.lastname: Yaron
authors.forename: A
authors.initials: A
authors.lastname: Orr-Urtreger
authors.forename: S
authors.initials: S
authors.lastname: Harel
authors.forename: C
authors.initials: C
authors.lastname: Legum
mesh_terms: D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D006801:Humans; D008297:Male; D009132:Muscles / Q000196:embryology / Q000473:pathology*; D020388:Muscular Dystrophy, Duchenne / Q000473:pathology*; D010375:Pedigree; D011296:Prenatal Diagnosis / Q000379:methods*