Oi S, Matsumoto S, Katayama K, Mochizuki M
Department of Neurosurgery, Kobe University, School of Medicine.
No Shinkei Geka. 1989 Nov;17(11):1029-35.
Thirty one cases of prenatally diagnosed CSN malformations were encountered in our institutions between 1982 and 1988. There were 42 disclosed lesions including 24 hydrocephalus, 3 anencephaly, 3 myeloschisis, 3 holoprosencephaly, 3 encephalocele, 2 Dandy-Walker cyst, 1 hydroencephalodysplasia, 1 brain tumor (Teratoma), 1 sacrococcygeal teratoma and 1 sacral agenesis. The gestational age at diagnosis ranged from 24 to 40 weeks of gestation (average 33.4 weeks). All were diagnosed by ultrasonography, and either MRI or whole body CT was additionally performed to evaluate the morphology in ten patients. MRI was a definitely useful diagnostic tool to evaluate the intracranial morphology, whereas whole body CT was much superior to other diagnostic imagings to visualize the condition of cranium or cranial sutures. Using these diagnostic procedures the type of hydrocephalus, was able to be identified, according to the major categories, in the individual cases. Spine morphology, however, was not detected n such high quality by MRI. Ultrasonography combined with application of whole body CT, with or without MRI, may be the best method now available to diagnose spina bifida. However, at the present time, this cannot be done until after 24 weeks of gestational age. It is our strong impression that such diagnostic technique for fetal CNS malformations will be improved, and selection of therapeutic modalities will be decided in the prenatal period before birth in the near future. It will be a dramatic change in the clinical historical phase in the treatment of CNS malformations, but establishment of therapeutic regimen along with more precise analysis of natural history, pathophysiology, postnatal outcome and ethical aspects of these congenital anomalies is required.
1982年至1988年间,我们机构共遇到31例产前诊断的中枢神经系统(CSN)畸形病例。共发现42处病变,包括24例脑积水、3例无脑儿、3例脊柱裂、3例前脑无裂畸形、3例脑膨出、2例Dandy-Walker囊肿、1例积水性无脑发育不良、1例脑肿瘤(畸胎瘤)、1例骶尾部畸胎瘤和1例骶骨发育不全。诊断时的孕周为24至40周(平均33.4周)。所有病例均通过超声诊断,另外10例患者还进行了MRI或全身CT检查以评估形态。MRI是评估颅内形态的绝对有用的诊断工具,而全身CT在显示颅骨或颅缝情况方面比其他诊断成像优越得多。使用这些诊断程序,能够根据主要类别在个体病例中确定脑积水的类型。然而,MRI对脊柱形态的检测质量不高。超声结合全身CT应用,无论是否联合MRI,可能是目前诊断脊柱裂的最佳方法。然而,目前在孕24周之前无法做到这一点。我们强烈认为,胎儿中枢神经系统畸形的诊断技术将会改进,在不久的将来,产前就可以决定治疗方式的选择。这将是中枢神经系统畸形治疗临床历史阶段的巨大变化,但需要建立治疗方案,并对这些先天性异常的自然史、病理生理学、产后结局和伦理方面进行更精确的分析。