Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD)

This study outlines the molecular DNA findings derived from 12 separate pre natal diagnoses offered to families with a history of facioscapulohumeral m uscular dystrophy. A high risk of the fetus being affected was identified i n five pregnancies. Several practical problems are discussed, particularly those arising from the quality and quantity of DNA made available for molec ular diagnosis. Evidence of the 4q35 and 10q26 telomeric exchanges is prese nt 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 (C) 19 99 John Wiley & Sons, Ltd.