Keller B A, Farmer D L
University of California, Davis Health System, Sacramento, CA, USA -
Minerva Pediatr. 2015 Aug;67(4):341-56. Epub 2015 Feb 20.
Myelomeningocele, more commonly known as spina bifida, is the most common neural tube defect worldwide. In the United States, it is the primary cause of lifelong childhood paralysis with approximately four children born daily with this devastating disease. To minimize damage to the exposed spinal cord and prevent ascending central nervous system infections, postnatal closure of the spinal defect has been the standard of care for decades. Research into the mechanism of spinal cord injury in those with spina bifida revealed that damage continues to accrue during the gestational period. Prenatal defect closure via in utero surgery was proposed to prevent this early deterioration of the spinal cord, and early animal research demonstrated that prenatal repair was feasible and promising. This paved the way for the first human prenatal repairs in the mid-to-late 1990s. Following the promising outcomes observed during the first human cases, a randomized controlled trial, the Management of Myelomeningocele Study (MOMS), was conducted comparing postnatal repair of spina bifida to prenatal repair. The MOMS trial demonstrated that to those undergoing prenatal repair of spina bifida had a decreased need for ventriculoperitoneal shunting and improved lower extremity motor function. With the success of the MOMS trial, in utero repair is now considered the standard of care in those who meet the criteria for prenatal repair. This review will provide an overview of spina bifida and its impact, highlight the historical changes in care, describe the early research and theory that made prenatal repair an option, discuss the clinical experiences with human fetal repair and briefly touch on future research directions for those with myelomeningocele.
脊髓脊膜膨出，更为人熟知的名称是脊柱裂，是全球最常见的神经管缺陷。在美国，它是儿童终身瘫痪的主要原因，每天约有四名儿童患有这种毁灭性疾病。为了将对暴露脊髓的损伤降至最低并防止中枢神经系统感染上行，几十年来，产后闭合脊柱缺陷一直是标准治疗方法。对脊柱裂患者脊髓损伤机制的研究表明，在妊娠期损伤仍在不断累积。有人提出通过宫内手术进行产前缺陷闭合，以防止脊髓早期恶化，早期动物研究表明产前修复是可行且有前景的。这为20世纪90年代中后期的首例人类产前修复手术铺平了道路。在首例人类病例中观察到有前景的结果后，开展了一项随机对照试验，即脊髓脊膜膨出管理研究（MOMS），比较脊柱裂的产后修复和产前修复。MOMS试验表明，接受脊柱裂产前修复的患者进行脑室腹腔分流的需求减少，下肢运动功能得到改善。随着MOMS试验的成功，对于符合产前修复标准的患者，宫内修复现在被视为标准治疗方法。本综述将概述脊柱裂及其影响，突出治疗方法的历史变化，描述使产前修复成为一种选择的早期研究和理论，讨论人类胎儿修复的临床经验，并简要提及脊髓脊膜膨出患者未来的研究方向。
