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 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.
Tercanli
S
S
Department of Obstetrics and Gynecology, University Hospital Basel, Switzerland. tercanlis@uhbs.ch
Uyanik
G
G
Hösli
I
I
Cagdas
A
A
Holzgreve
W
W
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
D015094:3-Hydroxyacyl CoA Dehydrogenases