First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi.

Conradi, Nils,1950Gothenburg University,Göteborgs universitet,Institutionen för pediatrik,Department of pediatrics (author)

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.

Uvebrant, Paul,1951Gothenburg University,Göteborgs universitet,Institutionen för pediatrik,Department of pediatrics(Swepub:gu)xuvepa (author)
Hökegård, Klas-Henry,1936Gothenburg University,Göteborgs universitet,Institutionen för pediatrik,Department of pediatrics (author)
Wahlström, Jan,1939Gothenburg University,Göteborgs universitet,Institutionen för pediatrik,Department of pediatrics(Swepub:gu)xwahja (author)
Mellqvist, LarsGothenburg University,Göteborgs universitet,Institutionen för pediatrik,Department of pediatrics (author)
Göteborgs universitetInstitutionen för pediatrik (creator_code:org_t)

By the author/editor: Conradi, Nils, 1 ...; Uvebrant, Paul, ...; Hökegård, Klas-H ...; Wahlström, Jan, ...; Mellqvist, Lars

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