1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE

Canavan disease (McKusick 27190) is an autosomal recessive leukodystro phy characterized by aspartoacylase (EC 3.5.1.15) deficiency, associat ed with increased N-acetylaspartate (NAA) concentrations in body fluid s. Prenatal diagnosis has been performed previously on cultured amniot ic fluid cells (Matalon et al 1988), by measuring aspartoacylase activ ity or in amniotic fluid by detecting NAA accumulation (Jakobs et al 1 991) 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.