Prenatal diagnosis of neuronal ceroid‐lipofuscinoses

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Abstract
We report on the successful prenatal diagnosis of the late infantile “Jansky‐Bielschowsky” variant of the neuronal ceroid‐lipofuscinoses (NCL). The fetus was studied at 16 weeks of gestation because of an affected sib. Uncultured amniotic fluid cells were studied by conventional electron microscopic techniques. About one‐third of a subpopulation of dark, elongated cells contained one or more deposits of curvilinear cytosomes bound by a single unit membrane. These findings were considered typical of the late infantile variant of NCL. After delivery at term, a skin punch biopsy and a buffy coat preparation from the baby were examined and found to have similar characteristic inclusions, which confirmed our prenatal diagnosis.