title: First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi.
abstract: One of the most common hereditary, progressive encephalopathies in children--juvenile neuronal ceroid lipofuscinosis (NCL)--lacks methods for carrier detection and prenatal diagnosis. A transcervical chorionic villus biopsy was performed at 9 completed weeks in a fetus at high risk of this disease. The syncytiotrophoblast of the chorionic villi contained fingerprint inclusions similar to those observed in various cells from children with this disease. Together with previous reports of second-trimester diagnosis in a case with late-infantile NCL (MacLeod et al., 1984, 1985), the presence of typical inclusions in placental tissue sampled at term in the infantile NCL (Rapola et al., 1987) and the lack of pathological alterations in one fetus at high risk of juvenile NCL and without clinical and morphological signs of disease at the age of 15 months (Kohlschutter et al., 1989), our findings strongly indicate that an early prenatal diagnosis of (juvenile) NCL is possible.
authors.affiliation: Department of Pathology, University of Gothenburg, Sweden.
authors.forename: N G
authors.initials: NG
authors.lastname: Conradi
authors.forename: P
authors.initials: P
authors.lastname: Uvebrant
authors.forename: K H
authors.initials: KH
authors.lastname: Hökegård
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
authors.forename: L
authors.initials: L
authors.lastname: Mellqvist
mesh_terms: D002824:Chorionic Villi / Q000473:pathology* / Q000648:ultrastructure; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First