title: First trimester prenatal diagnosis of Sandhoff's disease.
abstract: Chorionic villus sampling was performed on two patients with a previous family history of Sandhoff's disease. Total beta-hexosaminidase (Hex) activity in case 1 was within the normal range (case 1: 6365 mumol/h/g protein; control range: 3227-24 495 mumol/h/g protein). The beta-hexosaminidase isoenzyme pattern was found to be normal. These results were confirmed on cultured amniotic fluid cells. In case 2, the total Hex activity was 672 mumol/h/g protein, i.e., 7 per cent of the control mean (10,085 mumol/h/g protein), and chromatography demonstrated that more than 50 per cent of this activity was due to the abnormal isoenzyme beta-hexosaminidase S (Hex S). The fetus was predicted to be affected by Sandhoff's disease and this was confirmed on fetal tissues after termination of pregnancy. This study demonstrates that a fetus affected by Sandhoff's disease can be reliably diagnosed during the first trimester of pregnancy.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, U.K.
authors.forename: L
authors.initials: L
authors.lastname: Giles
authors.forename: A
authors.initials: A
authors.lastname: Cooper
authors.forename: B
authors.initials: B
authors.lastname: Fowler
authors.forename: I B
authors.initials: IB
authors.lastname: Sardharwalla
authors.forename: P
authors.initials: P
authors.lastname: Donnai
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology; D001706:Biopsy; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D002848:Chromatography, DEAE-Cellulose; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000032:analysis; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000201:enzymology; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism
chemical_list: D007527:Isoenzymes; D001619:beta-N-Acetylhexosaminidases