1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE

Canavan disease (McKusick 27190) is an autosomal recessive leukodystrophy characterized by aspartoacylase (EC 3.5.1.15) deficiency, associated with increased N-acetylaspartate (NAA) concentrations in body fluids. Prenatal diagnosis has been performed previously on cultured amniotic fluid cells (Matalon et al 1988), by measuring aspartoacylase activity or in amniotic fluid by detecting NAA accumulation (Jakobs et al 1991) in the second trimester of pregnancy. We report a positive first-trimester prenatal diagnosis by measurement of aspartoacylase activity in fresh chorionic villus samples (CVS) obtained at the 11th week of amenorrhoea.