神经管缺陷的产前处理:重新评估的时间

M. Endo, T. Mieghem, E. Eixarch, P. Coppi, G. Naulaers, F. Calenbergh, L. Catte, R. Devlieger, L. Lewi, A. Eggink, K. Nicolaides, E. Gratacós, J. Deprest
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引用次数: 6

摘要

神经管缺陷(NTD)在欧洲的患病率约为每10,000名新生儿中有9名,使其成为影响中枢神经系统的最常见的先天性异常之一。NTD包括所有继发于神经管闭合失败的异常。在这篇综述中,我们将首先概述与热带病有关的胚胎学和一些流行病学方面。本文综述的重点是脊髓脊膜膨出(MMC),这是最常见的远端闭合缺陷。我们将描述继发性病理变化在中枢和周围神经系统,出现在怀孕后期,并有助于条件的发病率。MMC的产后影响主要取决于病变的上部。在欧洲,绝大多数患有产前诊断的被忽视热带病(包括MMC)的胎儿的父母选择终止妊娠,因为他们显然被认为是非常虚弱的状况。动物实验表明,产前手术可以逆转这一顺序。这为临床胎儿手术铺平了道路,结果明显改善。最近的一项随机试验结果证实,与产后修复相比,胎儿修复后的结果更好;随访30个月。这应该促使胎儿医学专家重新考虑他们对这种情况以及产前修复的立场。鲁汶的胎儿外科中心在mom试验发表之前没有胎儿NTD修复的临床方案。为了安全有效地提供这一程序,我们与一个愿意分享其专业知识并协助我们进行第一次程序的大容量中心结盟。鉴于目前开放胎儿手术技术对母体的副作用,我们已经加强了我们的研究计划,以探索微创替代方案。下面我们将描述如何实现它。
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THE PRENATAL MANAGEMENT OF NEURAL TUBE DEFECTS: TIME FOR A RE-APPRAISAL
The prevalence of neural tube defects (NTD) in Europe is around 9 per 10,000 births making it one of the most frequent congential anomalies affecting the central nervous system. NTD encompass all anomalies that are secondary to failure of closure of the neural tube. In this review, we will first summarize the embryology and some epidemiologic aspects related to NTDs. The review focuses on myelomeningocele (MMC), which is the most common distal closure defect. We will describe the secondary pathologic changes in the central and peripheral nervous system that appear later on in pregnancy and contribute to the condition's morbidity. The postnatal impact of MMC mainly depends on the upper level of the lesion. In Europe, the vast majority of parents with a fetus with prenatally diagnosed NTDs, including MMC, opt for termination of pregnancy, as they are apparently perceived as very debilitating conditions. Animal experiments have shown that prenatal surgery can reverse this sequence. This paved the way for clinical fetal surgery resulting in an apparent improvement in outcome. The results of a recent randomized trial confirmed better outcomes after fetal repair compared to postnatal repair; with follow up for 30 months. This should prompt fetal medicine specialists to reconsider their position towards this condition as well as its prenatal repair. The fetal surgery centre in Leuven did not have a clinical programme for fetal NTD repair until the publication of the MOMS trial. In order to offer this procedure safely and effectively, we allied to a high volume centre willing to share its expertise and assist us in the first procedures. Given the maternal side effects of current open fetal surgical techniques, we have intensified our research programmes to explore minimally invasive alternatives. Below we will describe how we are implementing this.
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