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

Mark I. Evans; Anne Greb; Louis M. Kunkel; Alan J. Sacks; Mark P. Johnson; Corinne Boehm; Haig H. Kazazian; Eric P. Hoffman

doi:10.1016/0002-9378(91)90318-L

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

Mark I. Evans, Anne Greb, Louis M. Kunkel, Alan J. Sacks, Mark P. Johnson, Corinne Boehm, Haig H. Kazazian, Eric P. Hoffman

School of Medicine

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	728-732
Number of pages	5
Journal	American journal of obstetrics and gynecology
Volume	165
Issue number	3
DOIs	https://doi.org/10.1016/0002-9378(91)90318-L
State	Published - Sep 1991

Keywords

Duchenne muscular dystrophy
in utero muscle biopsy
prenatal diagnosis

ASJC Scopus subject areas

Obstetrics and Gynecology

Access to Document

10.1016/0002-9378(91)90318-L

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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.",

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author = "Evans, {Mark I.} and Anne Greb and Kunkel, {Louis M.} and Sacks, {Alan J.} and Johnson, {Mark P.} and Corinne Boehm and Kazazian, {Haig H.} and Hoffman, {Eric P.}",

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AU - Evans, Mark I.

AU - Greb, Anne

AU - Kunkel, Louis M.

AU - Sacks, Alan J.

AU - Johnson, Mark P.

AU - Boehm, Corinne

AU - Kazazian, Haig H.

AU - Hoffman, Eric P.

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AB - 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.

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KW - in utero muscle biopsy

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