Increased nuchal translucency in a case of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

We present a case where the embryo showed an increased nuchal edema and a m etabolic disorder. At 31 weeks of gestation the fetus developed a cardiomeg aly and a hydrops. In this case, a long-chain 3-hydroxacylcoenzyme A dehydr ogenase deficiency (LCHAD deficiency) was confirmed by biochemical investig ations in cultured chorionic villus cells and by DNA analysis. This metabol ic disease causes a reduced production of mitochondrial trifunctional prote ins and is a very rare autosomal-recessive disease. Copyright (C) 2000 S. K arger AG, Basel.