Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi |
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Authors: | Dr Juhani Rapola MD Riitta Salonen Pirkko Ämmälä Pirkko Santavuori |
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Institution: | 1. Laboratory of Prenatal Genetics, Department of Obstetrics and Gynecology, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland;2. Department of Child Neurology, University of Helsinki, Helsinki, Finland |
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Abstract: | Chorionic villus biopsy specimens were studied electron microscopically in six pregnancies at risk of the infantile type of neuronal ceroid lipofuscinosis (INCL). The biopsy was performed in all cases in the first trimester of pregnancy (8–10 gestation weeks) by the transcervical route. In one case, the biopsy was repeated at 17 weeks by the transabdominal procedure. In two pregnancies, the endothelial cells and, to a lesser extent, the mesenchymal cells of the chorionic villi contained unit membrane-bound inclusions typical of INCL. In both cases, the pregnancy was terminated and in one of them identical inclusions were found in the brains and kidneys of the fetus at 20 weeks of gestational age. The children from the remaining four pregnancies are healthy and have shown no signs of the disease. |
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Keywords: | Infantile neuronal ceroid lipofuscinosis Chorionic villi Electron microscopy |
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