Sonographic prenatal diagnosis of central nervous system abnormalities
Sonographic prenatal diagnosis of central nervous system abnormalities
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DOI：
10.1007/s00381-003-0768-3
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发表时间：
2003-08-01
影响因子：
1.4
通讯作者：
Dommergues, M
中科院分区：
文献类型：
--
作者：
Aubry, MC;Aubry, JP;Dommergues, M
简介：在过去的20年里，新生儿神经系统畸形的频谱已经改变了，由于超声的扩散，无论是常规检查还是根据母亲甲胎蛋白筛查或病史的要求。讨论：我们回顾并说明超声在产前诊断颅骨大小或形状异常（大头畸形、小头畸形、颅狭窄）、神经管缺陷、脑室肿大、脑积水、后窝缺陷（大池大小异常、小脑异常）、中线异常（前脑畸形、胼胝体异常）、缺血性病变和出血、肿瘤和局灶性高回声图像中的潜力。胎儿超声筛查的限制和各种诊断策略实施时，怀疑胎儿脑异常进行了讨论。总的来说，严重的致命异常，如无脑儿或严重的脑积水，可以通过产前超声筛查，几乎总是导致终止妊娠。然而，脑积水可能在妊娠后期进展，除非在妊娠晚期进行超声检查，否则不会被发现。大多数脊髓脊膜膨出的病例是在产前诊断出来的，导致终止妊娠或新生儿管理。越来越多的更细微的异常，包括中线或后窝异常，可以通过胎儿超声发现，但它们的产后结局并不总是准确预测，尽管使用胎儿磁共振成像。在这种情况下，涉及围产期医生、儿科放射科医生、神经病理学家、神经外科医生或熟悉新生儿的神经科医生的跨学科方法对向父母提供咨询至关重要。尽管超声成像技术取得了进步，但一些大脑异常仍然很难甚至不可能在子宫内诊断出来。这是因为严重的神经损伤可能是由不会严重影响大脑形态的条件造成的，而且主要的结构异常可能在妊娠后期出现，因此在妊娠中期超声检查中无法发现。结论：超声筛查发现越来越多的中枢神经系统异常，导致新生儿神经系统先天性异常的表现发生实质性变化。
Introduction: Over the past 20 years, the spectrum of neonatal neurological malformations has changed due to the diffusion of ultrasound, performed either routinely or as required by maternal alpha-fetoprotein screening or history. Discussion: We review and illustrate the potential of ultrasound for the prenatal diagnosis of abnormalities in size or shape of the skull (macrocephaly, microcephaly, craniostenosis), neural tube defects, ventriculomegaly, hydrocephalus, posterior fossa defects (abnormalities in the size of the cisterna magna, cerebellar abnormalities), midline abnormalities (holoprosencephaly, abnormalities of the corpus callosum), ischemic lesions and hemorrhage, tumours, and focalized hyperechogenic images. The limits of fetal ultrasound screening and of the various diagnostic strategies implemented when a fetal brain abnormality is suspected are discussed. Overall, gross lethal abnormalities such as anencephaly or major hydrocephaly are accessible to prenatal sonographic screening, and nearly always result in termination of the pregnancy. However, hydrocephaly may progress late in gestation and remain undiscovered unless a third trimester ultrasound is performed. A majority of cases with myelomeningocele are diagnosed prenatally, resulting either in termination of the pregnancy or in neonatal management. A growing number of more subtle abnormalities, including midline or posterior fossa abnormalities can be spotted by fetal ultrasound, but their postnatal outcome cannot always be predicted accurately, despite the use of fetal magnetic resonance imaging. In such cases, a trans-disciplinary approach involving perinatologists, pediatric radiologists, neuropathologists, neurosurgeons or neurologists familiar with neonates is crucial to counseling the parents. Some brain abnormalities are still extremely difficult or even impossible to diagnose in utero despite advances in sonographic imaging. This is due to the fact that severe neurological impairment may result from conditions that do not affect substantially affect the morphology of the brain, and that major structural abnormalities may develop late in gestation, and thus remain undetected at second trimester ultrasound. Conclusion: Ultrasound screening identifies a growing number of central nervous system abnormalities, resulting in substantial changes in the neonatal presentation of neurological congenital abnormalities.