Nielsen Ljudmilla A G, Maroun Lisa Leth, Broholm Helle, Laursen Henning, Graem Niels
Department of Pathology, The Centre of Diagnostic Investigations, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
APMIS. 2006 Apr;114(4):239-46. doi: 10.1111/j.1600-0463.2006.apm_325.x.
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.
神经管缺陷（NTDs）是胚胎发育过程中神经管异常闭合继发的中枢神经系统（CNS）先天性畸形。本研究提供了丹麦16年间胎儿及围产期尸检系列中NTD的发生率、分布情况、相关形态学异常及器官重量的信息。数据取自1989年至2004年期间哥本哈根地区连续1984例胎儿及围产期尸检的尸检报告。记录的参数包括：NTD的位置和形态、相关形态学异常以及器官重量。根据新的胎儿尸检标准评估器官重量，并分为低、正常或高。共发现97例NTD病例（4.9%）：脊柱裂（38例）、脑膨出（17例）和无脑儿（42例）。63%的NTD病例伴有形态学异常。最常见的异常包括脑积水、其他部位的NTD以及泌尿生殖系统异常。58%的NTD病例存在一个或多个器官重量异常。最显著的是，不仅无脑儿胎儿，脑膨出病例中肾上腺重量也较低，提示可能存在关联。
