Am J Obstet Gynecol. 1991 Sep;165(3):728-32.

In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.

Evans MI, Greb A, Kunkel LM, Sacks AJ, Johnson MP, Boehm C, Kazazian HH Jr, Hoffman EP.

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Department of Obstetrics and Gynecology, Hutzel Hospital, Wayne State University, Detroit, MI 48201.

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.

PMID:: 1892202; [PubMed - indexed for MEDLINE]

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Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy. [Hum Genet. 1992]
Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy.
Kuller JA, Hoffman EP, Fries MH, Golbus MS. Hum Genet. 1992 Sep-Oct; 90(1-2):34-40.
Review In utero fetal muscle biopsy: a precious aid for the prenatal diagnosis of Duchenne muscular dystrophy. [Fetal Diagn Ther. 1999]
Review In utero fetal muscle biopsy: a precious aid for the prenatal diagnosis of Duchenne muscular dystrophy.
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In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus "suddenly at risk". [Am J Med Genet. 1993]
In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus "suddenly at risk".
Evans MI, Farrell SA, Greb A, Ray P, Johnson MP, Hoffman EP. Am J Med Genet. 1993 May 15; 46(3):309-12.
In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. [Fetal Diagn Ther. 1995]
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Review Duchenne and Becker muscular dystrophies: genetics, prenatal diagnosis, and future prospects. [Clin Perinatol. 1990]
Review Duchenne and Becker muscular dystrophies: genetics, prenatal diagnosis, and future prospects.
Bieber FR, Hoffman EP. Clin Perinatol. 1990 Dec; 17(4):845-65.

See reviews... See all...

Cited by 2 PubMed Central articles

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Review Fetal tissue sampling--indications, techniques, complications, and experience with sampling of fetal skin, liver, and muscle.
Cadrin C, Golbus MS. West J Med. 1993 Sep; 159(3):269-72.
Review Molecular biology of neurological diseases. [Postgrad Med J. 1992]
Review Molecular biology of neurological diseases.
Cumming WJ. Postgrad Med J. 1992 Apr; 68(798):237-41.

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