Chen Chih-Ping
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2008 Mar;47(1):10-7. doi: 10.1016/S1028-4559(08)60049-2.
Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, Jarcho-Levin syndrome (spondylocostal dysostosis), lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and hyperthermia. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.
患有神经管缺陷（NTDs）的胎儿可能与综合征、疾病及母体风险因素有关。本文全面综述了与NTDs相关的综合征、疾病及母体风险因素，如库拉里诺综合征、伴有前脑膨出的骶骨缺损、贾乔-莱文综合征（脊椎肋骨发育不良）、外侧脑膨出综合征、I型神经纤维瘤病、马方综合征和体温过高。与综合征、疾病及母体风险因素相关的NTDs中，母体叶酸摄入的复发风险及预防效果可能与非综合征性多因素NTDs不同。围产期对NTDs的识别应提醒人们注意与NTDs相关的综合征、疾病及母体风险因素，并促使进行全面的病因调查和遗传咨询。
