Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
Semin Fetal Neonatal Med. 2012 Dec;17(6):330-5. doi: 10.1016/j.siny.2012.07.004. Epub 2012 Oct 23.
This study analyzed 156 cases of fetal hydrocephalus treated at Osaka National Hospital from 1992 to 2011 to review current methods for diagnosing and treating fetal hydrocephalus, and for estimating its clinical outcome. This was a retrospective study of a single institute (Osaka National Hospital). Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, six of holoprosencephaly, three of Dandy-Walker syndrome, one case of Joubert syndrome, 12 of arachnoid cyst, nine of encephalocele, three of atresia of Monro and eight of corpus callosum agenesis, and 13% as secondary hydrocephalus. Diagnoses were made between 13 and 40 weeks of gestation (average 27 weeks). Diagnosis was made before 21 weeks of gestation in 24% of cases, from the first day of 22 weeks to the sixth day of 27 weeks in 27%, and after the first day of 28 weeks in 49%. With the exclusion of 17 aborted cases and 40 cases in which the patients were too young to evaluate or lost during follow-up, the final outcome was analyzed for 90 cases. Of these, 17% of the patients died, 21% showed severe retardation, 13% moderate retardation, 26% mild retardation, and 23% showed a good outcome. The long-term outcome was mostly influenced by the basic disease and accompanying anomaly. The time of diagnosis showed no correlation with outcome. Hydrocephalus associated with arachnoid cyst, atresia of Monro, and corpus callosum agenesis, and hydrocephalus due to fetal intracranial hemorrhage, resulted in good outcomes. By contrast, holoprosencephaly, hydrocephalus associated with encephalocele, syndromic hydrocephalus, and hydrocephalus due to fetal virus infection led to poor outcomes. For accurate diagnosis and proper counseling, established protocols are important for the diagnosis and treatment of fetal hydrocephalus, including not only fetal sonography, fetal magnetic resonance imaging, and TORCH (toxoplasma, rubella, cytomegalovirus, herpes simplex) screening test, but also chromosomal and gene testing.
本研究分析了 1992 年至 2011 年在大阪国立医院治疗的 156 例胎儿脑积水病例，以回顾胎儿脑积水的诊断和治疗方法，并评估其临床预后。这是一项单中心（大阪国立医院）的回顾性研究。156 例病例中，37%为孤立性脑室扩大，50%为其他类型畸形（36 例脊髓脊膜膨出，6 例前脑无裂畸形，3 例 Dandy-Walker 综合征，1 例 Joubert 综合征，12 例蛛网膜囊肿，9 例脑膨出，3 例 Monro 孔闭锁，8 例胼胝体发育不全，13%为继发性脑积水。诊断在妊娠 13 至 40 周（平均 27 周）之间进行。24%的病例在 21 周前做出诊断，27%在 22 周第一天至 27 周第六天，49%在 28 周后做出诊断。排除 17 例流产病例和 40 例因太小而无法评估或随访中失访的病例，对 90 例进行了最终结局分析。其中，17%的患者死亡，21%为重度发育迟缓，13%为中度发育迟缓，26%为轻度发育迟缓，23%为良好结局。长期结局主要受基础疾病和伴发畸形的影响。诊断时间与结局无相关性。与蛛网膜囊肿、Monro 孔闭锁和胼胝体发育不全相关的脑积水以及胎儿颅内出血引起的脑积水结果良好。相反，前脑无裂畸形、与脑膨出相关的脑积水、综合征性脑积水和胎儿病毒感染引起的脑积水结果较差。为了准确诊断和适当咨询，胎儿脑积水的诊断和治疗需要建立既定方案，包括胎儿超声、胎儿磁共振成像和 TORCH（弓形虫、风疹病毒、巨细胞病毒、单纯疱疹病毒）筛查试验，以及染色体和基因检测。
