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Neural tube defects and associated anomalies in a fetal and perinatal autopsy series

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Nielsen LAG, Maroun LL, Broholm H, Laursen H, Graem N. Neural tube defects and associated anomalies in a fetal and perinatal autopsy series. APMIS 2006;114:239–46.

Neural tube defects (NTDs) are congenital malformations of the central nervous system (CNS) secondary to abnormal closure of the neural tube during embryonic development. This study provides information on NTD rate, distribution, associated morphologic anomalies and organ weights in a Danish fetal and perinatal autopsy series during a 16 year period. The data were extracted from the autopsy reports of a consecutive series of 1984 fetal and perinatal autopsies from the Copenhagen area performed in the period 1989–2004. Registered parameters included: The location and morphology of the NTD, associated morphological anomalies, and organ weights. Organ weights were evaluated according to new fetal autopsy standards and grouped as low, normal or high. Ninety-seven NTD cases were found (4.9%): Spina bifida (38 cases), cephalocele (17 cases) and anencephaly (42 cases). 63% of NTD cases had associated morphologic anomalies. Among the most common were hydrocephalus, NTD in another region, and anomalies in the urogenital system. 58% of the NTD cases had abnormal weight of one or more organs. Most notable was low adrenal weight not only in anencephalic fetuses but also in cases with cephalocele, suggesting a possible association.
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Keywords: Autopsy; fetal malformation; neural tube defects; organ weights

Document Type: Research Article

Affiliations: Department of Pathology, The Centre of Diagnostic Investigations, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark

Publication date: 2006-04-01

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