In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy
| Autor: | Eric P. Hoffman, Mark P. Johnson, Alan J. Sacks, Anne Greb, Mark I. Evans, Louis M. Kunkel, Haig H. Kazazian, C. D. Boehm |
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| Rok vydání: | 1991 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Biopsy Duchenne muscular dystrophy Prenatal diagnosis Muscular Dystrophies Ultrasonography Prenatal Dystrophin Pregnancy Prenatal Diagnosis medicine Humans Fetus Muscle biopsy biology medicine.diagnostic_test business.industry Muscles Obstetrics and Gynecology DNA medicine.disease Fetal Diseases In utero embryonic structures biology.protein Female business |
| Zdroj: | American Journal of Obstetrics and Gynecology. 165:728-732 |
| ISSN: | 0002-9378 |
| DOI: | 10.1016/0002-9378(91)90318-l |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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