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Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD)
Author(s) -
Upadhyaya Meena,
MacDonald Moira,
Ravine David
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<959::aid-pd676>3.0.co;2-b
Subject(s) - facioscapulohumeral muscular dystrophy , prenatal diagnosis , muscular dystrophy , population , medicine , medical diagnosis , genetics , fetus , pediatrics , pregnancy , biology , pathology , environmental health
This study outlines the molecular DNA findings derived from 12 separate prenatal diagnoses offered to families with a history of facioscapulohumeral muscular dystrophy. A high risk of the fetus being affected was identified in five pregnancies. Several practical problems are discussed, particularly those arising from the quality and quantity of DNA made available for molecular diagnosis. Evidence of the 4q35 and 10q26 telomeric exchanges is present in 20 per cent of the general population and the specificity of the test is 95 per cent. The eventual isolation and functional characterization of the FSHD gene should allow us to unravel many of the complexities currently associated with the molecular diagnosis of this disorder. Copyright © 1999 John Wiley & Sons, Ltd.