title: Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency.
abstract: We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured chorionic villus cells and by DNA analysis. This metabolic disease causes a reduced production of mitochondrial trifunctional proteins and is a very rare autosomal-recessive disease.
authors: Department of Obstetrics and Gynecology, University Hospital Basel, Switzerland. tercanlis@uhbs.ch
authors: S
authors: S
authors: Tercanli
authors: G
authors: G
authors: Uyanik
authors: I
authors: I
authors: Hösli
authors: A
authors: A
authors: Cagdas
authors: W
authors: W
authors: Holzgreve
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000328:Adult; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000150:complications / Q000000981:diagnostic imaging*; D009333:Neck / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases