Document Detail

Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi.
MedLine Citation:
PMID:  2176289     Owner:  NLM     Status:  MEDLINE    
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.
J Rapola; R Salonen; P Ammälä; P Santavuori
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  10     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1990 Sep 
Date Detail:
Created Date:  1991-02-08     Completed Date:  1991-02-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  553-9     Citation Subset:  IM    
Department of Pathology, Helsinki University Central Hospital, Finland.
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MeSH Terms
Chorionic Villi Sampling*
Ganglia, Autonomic / pathology
Inclusion Bodies / ultrastructure
Microscopy, Electron
Neuronal Ceroid-Lipofuscinoses / diagnosis*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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