胎儿外科技术在先天性脑脊髓脊膜膨出的应用现状和展望

Application status andfutureprospects of fetalsurgeryformyelomeningocele

先天性脊髓脊膜膨出是胎儿先天性中枢神经系统畸形常见的类型，生后即使不予任何干预，胎儿多数都能健康的活着生下来，但其伴随的神经功能障碍、致残率十分严重。“二次打击”假说的提出，开启了人类胎儿外科先天性脊髓脊膜膨出的策略性研究。大量临床试验及动物模型观察表明，胎儿外科干预可挽救部分患儿的神经功能，在19-25周之间较为理想。2003—2010年美国国立卫生研究院（National Institutes of Health，NIH）发起多中心前瞻性随机临床试验（management of myelomeningocele study，MOMS），在符合研究标准的人群进行胎儿外科手术，结果表明产前手术组与生后手术组相比生后1年死亡率降低、脑室一腹腔分流率降低、生后30个月贝利精神评估较高、独立行走能力较好，不利之处为胎膜破裂、羊水过少、早产发生率高，且易造成子宫裂开、子宫瘢痕形成等，可能影响日后生育功能，试验中未发生母亲致死事件。目前动物实验和临床研究结果都表明其疗效良好，具有可行性，但随即产生的各种并发症、早产等问题是未来需研究探讨的方向。

Myelomeningocele （MMC） is the most common of congenital anomalies of central nervous system Even without any intervention, most fetuses survive anyway. And due to its concomitant neurological dysfunctions, disability is severe. ＂ Two-hit hypothesis＂ has proposed and performed fetal operations for MMC. Various clinical trials and animal models have revealed that fetal surgical intervention could restore neurological functions. And the ideal time was at the gestational age of 19-25 weeks. Sponsored by National Institutes of Health, the prospective randomized controlled trial at multicenter （management of myelomeningocele study, MOMS） indicated that, as compared with postnatal repairing, prenatal MMC repair had a lower mortality 1 year after birth, decreased the need for postnatal VP shunting, improved one score derived from mental ＆ motor development at 30 months and ambulate became better. And the disadvantages were uterine rupture, uterine scar formation and unfavorable reproductive outcomes. There was no maternal death. The results of animal experiments and clinical trials confirm its good efficacy and feasibility. Such complications as premature problems shall be addressed later.