title: [Exclusion of Sandhoff disease (Tay-Sachs 0 variant) by chorion biopsy].
abstract: Transcervical chorionic villus sampling with ultrasound guidance at the 11-th week of pregnancy was made at a woman with the history of one lethal case of Sandhoff disease. The total hexosaminidase and the hexosaminidase A were determined. At the 16-th week amniocentesis was performed and the characteristic enzymes were determined from the amniotic cell culture. The results of the examinations made possible to advise the patient to carry out the pregnancy. The examinations after delivery confirmed the newborn to be a carrier.
authors.affiliation: Pécsi Orvostudományi Egyetem Szülészeti és Nögyógyászati Klinika, Gyermekklinika.
authors.forename: B
authors.initials: B
authors.lastname: Veszprémi
authors.forename: Z
authors.initials: Z
authors.lastname: Baranyai
authors.forename: L
authors.initials: L
authors.lastname: Klujber
authors.forename: A
authors.initials: A
authors.lastname: Arany
mesh_terms: D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D005260:Female; D006579:Heterozygote; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000235:genetics
vernacular_title: Sandhoff-betegség (Tay-Sachs 0 varians) kizárása chorionbiopszia segítségével.