title: First-trimester prenatal diagnosis of aspartylglucosaminuria.
abstract: Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.
authors: Department of Medical Genetics, University Central Hospital Turku, Finland.
authors: P
authors: P
authors: Aula
authors: K
authors: K
authors: Mattila
authors: O
authors: O
authors: Piiroinen
authors: P
authors: P
authors: Ammälä
authors: H
authors: H
authors: Von Koskull
mesh_terms: D000581:Amidohydrolases; D000653:Amniotic Fluid / Q000201:enzymology; D054880:Aspartylglucosaminuria; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D005260:Female; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D000581:Amidohydrolases