Premium
Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy
Author(s) -
Nevo Yoram,
Shomrat Ruth,
Yaron Yuval,
OrrUrtreger Avi,
Harel Shaul,
Legum Cyril
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199910)19:10<921::aid-pd660>3.0.co;2-a
Subject(s) - in utero , muscle biopsy , prenatal diagnosis , duchenne muscular dystrophy , biopsy , fetus , medicine , chorionic villi , muscular dystrophy , chorionic villus sampling , pathology , obstetrics , pregnancy , biology , genetics
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. Copyright © 1999 John Wiley & Sons, Ltd.