Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom.
Obstetrics and Gynaecology Unit, University of Parma, Parma, Italy.
Ultraschall Med. 2018 Dec;39(6):675-689. doi: 10.1055/a-0627-7173. Epub 2018 Jul 5.
We sought to assess the causes and outcomes of severe VM diagnosed de novo after 24 weeks of gestation where a mid-trimester anomaly scan was described as normal.
Multicenter retrospective study of five European fetal medicine centers. The inclusion criteria were normal anatomy at the mid-trimester scan, uni/bilateral finding of posterior ventricle measuring ≥ 15 mm after 24 weeks with neonatal and postnatal pediatric and/or neurological assessment data.
Of 74 potentially eligible cases, 10 underwent termination, the outcome was missing in 19 cases and there was 1 neonatal death. Therefore, 44 formed the study cohort with a median gestation at diagnosis of 32 + 0 weeks (25 + 6 - 40 + 5). VM was unilateral in five cases. Agenesis of the corpus callosum (ACC) and grade III/IV intraventricular hemorrhage (IVH) accounted for 14 cases each. ACC was isolated in 9 fetuses. Obstructive abnormalities included 5 arachnoid and 1 cavum velum interpositum cyst. Four fetuses had an associated suspected or confirmed genetic condition, 2 congenital infections, 1 abnormal cortical development and the etiology was unknown in 3/44. Postnatal assessment at median 20 months (3 - 96) showed 22/44 (50 %) normal, 7 (16 %) mildly abnormal and 15 (34 %) severely abnormal neurodevelopmental outcomes.
One half of babies with severe VM diagnosed after 24 weeks have normal infant outcome with ACC and IVH representing the most common causes. Etiology is the most important factor affecting the prognosis of fetuses with severe VM diagnosed at late gestation.
我们旨在评估 24 孕周后新诊断的重度脑室畸形（VM）的病因和结局，其中中期胎儿畸形扫描描述正常。
对欧洲 5 家胎儿医学中心的多中心回顾性研究。纳入标准为中期扫描时解剖结构正常，24 周后后颅窝池≥15mm（单侧或双侧），且有新生儿及产后儿科和/或神经评估数据。
74 例疑似病例中，10 例终止妊娠，19 例失访，1 例新生儿死亡。因此，44 例形成研究队列，诊断时的中位孕龄为 32+0 周（25+6-40+5）。VM 单侧 5 例，胼胝体发育不全（ACC）和 3/4 级脑室内出血（IVH）各 14 例。9 例为单纯性 ACC 畸形，梗阻性异常包括 5 例蛛网膜囊肿和 1 例中间帆腔囊肿。4 例胎儿合并疑似或确诊遗传疾病、2 例先天性感染、1 例皮质发育异常，3/44 例病因不明。中位数为 20 个月（3-96 个月）的产后评估显示，22/44（50%）正常，7（16%）轻度异常，15（34%）重度异常。
24 周后诊断为重度 VM 的婴儿中，有一半的婴儿有正常的婴儿结局，ACC 和 IVH 是最常见的病因。病因是影响晚期诊断为重度 VM 的胎儿预后的最重要因素。
