Division of Congenital and Developmental Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
LAC Group, Contractor to US Centers for Disease Control and Prevention, Library Science Branch, Division of Public Health Information Dissemination, Center for Surveillance, Epidemiology, and Laboratory Services, Atlanta, Georgia.
Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):151-164. doi: 10.1002/ajmg.c.31614. Epub 2018 May 15.
Holoprosencephaly (HPE) is a major structural birth defect of the brain that occurs in approximately 1 in 10,000 live births. Although some genetic causes of HPE are known, a substantial proportion of cases have an unknown etiology. Due to the low birth prevalence and rarity of exposure to many potential risk factors for HPE, few epidemiologic studies have had sufficient sample size to examine risk factors. A 2010 review of the literature identified several risk factors that had been consistently identified as occurring more frequently among cases of HPE, including maternal diabetes, twinning, and a predominance of females, while also identifying a number of potential risk factors that had been less widely studied. In this article, we summarize a systematic literature review conducted to update the evidence for nongenetic risk factors for HPE.
无脑回畸形（HPE）是一种主要的脑结构出生缺陷，在大约每 10000 例活产中发生 1 例。虽然已知 HPE 的一些遗传原因，但很大一部分病例的病因不明。由于 HPE 的出生率低，且暴露于许多潜在 HPE 危险因素的情况罕见，因此很少有流行病学研究有足够的样本量来检查危险因素。2010 年对文献的回顾确定了一些一致被认为在 HPE 病例中更频繁发生的危险因素，包括母体糖尿病、双胞胎和女性居多，同时也确定了一些较少广泛研究的潜在危险因素。在本文中，我们总结了一项系统的文献综述，旨在更新非遗传因素与 HPE 的相关性证据。
