Service de Médecine Foetale, Centre de Référence Maladie Rares MAVEM, Hôpital Armand Trousseau, Médecine Sorbonne Université, APHP, Paris, France.
Reference Center for Rare Disease: Vertebral and Spinal Cord Anomalies, Trousseau, France.
BJOG. 2021 Jan;128(2):376-383. doi: 10.1111/1471-0528.16185. Epub 2020 Mar 17.
To investigate cerebral anomalies other than Chiari type 2 malformation in fetuses with myelomeningocele (MMC).
A retrospective cohort study in a single tertiary centre.
A review of associated cerebral anomalies in cases with prenatal diagnosis of myelomeningocele.
Seventy cases of fetal myelomeningocele.
Ultrasound and MRI images were blindly reviewed. Postnatal imaging and results of the postmortem results were also reviewed. The association between cerebral anomalies and the following ultrasound findings was measured: level of the defect, ventriculomegaly, microcephaly and fetal talipes.
A microcephaly was observed in 32/70 cases (46%) and a ventriculomegaly was observed in 39/70 cases (56%). Other cerebral anomalies were diagnosed in 47/70 (67%).
Other cerebral anomalies were represented by 42/70 cases with abnormal CC (60%), 8/70 cases with perinodular heterotopia (PNH; 11%), 2/70 cases with abnormal gyration (3%). MRI performed only in fetal surgery cases confirmed the ulltrasound findings in all cases and provided additional findings in two cases (PNH). Risk ratios of fetal cerebral anomalies associated with MMC did not reach significance for microcephaly, ventriculomegaly, talipes or the level of the defect There was an overall good correlation between pre- and postnatal findings with a Kappa value of 0.79 [95% CI 0.57-1] and 82% agreement.
Fetal brain anomalies other than Chiari type 2 malformation are frequently observed in fetuses with myelomeningocele, predominantly represented by CC anomalies. Whether these associated cerebral anomalies have an impact on selecting cases eligible for fetal surgery needs further evaluation.
Fetal cerebral anomalies other than Chiari type 2 malformation, microcephaly, and ventriculomegaly may be associated with MMC in up to 67% of the cases.
探讨伴有脊髓脊膜膨出（MMC）胎儿除 Chiari Ⅱ型畸形以外的脑异常。
单中心回顾性队列研究。
对产前诊断为脊髓脊膜膨出的病例进行相关脑异常的回顾性分析。
70 例胎儿脊髓脊膜膨出。
对超声和 MRI 图像进行盲法复查，同时也对产后影像学和尸检结果进行了回顾。对脑异常与以下超声发现之间的关系进行了测量：缺陷水平、脑室扩张、小头畸形和胎儿足内翻。
70 例中有 32 例（46%）出现小头畸形，39 例（56%）出现脑室扩张。70 例中诊断出其他脑异常 47 例（67%）。
42 例（60%）病例存在异常胼胝体（CC），8 例（11%）病例存在结节性异位（PNH），2 例（3%）病例存在脑回异常。仅在胎儿外科病例中进行 MRI 检查，其结果均与超声发现一致，同时还在 2 例病例中提供了额外的发现（PNH）。与 MMC 相关的胎儿脑异常的风险比在小头畸形、脑室扩张、足内翻或缺陷水平上均无统计学意义。产前和产后检查的总体相关性良好，Kappa 值为 0.79（95%CI 0.57-1），一致性为 82%。
除 Chiari Ⅱ型畸形以外的胎儿脑异常在伴有脊髓脊膜膨出的胎儿中经常观察到，主要表现为 CC 异常。这些相关的脑异常是否对选择适合胎儿手术的病例有影响，需要进一步评估。
除 Chiari Ⅱ型畸形、小头畸形和脑室扩张以外的胎儿脑异常与 MMC 相关，在多达 67%的病例中可能存在。
