目标:历史上,灰质异位症的存在是开放性脊柱发育不良的胎儿闭合患者出生后神经认知不良状态的一个问题.这项研究的目的是评估产前诊断为脊髓膜膨出/脊髓裂开(MMC)和脑室周围结节性异位症(PVNH)的患者在儿童早期的神经发育结果和癫痫发作。
方法:确定了2016年6月至2023年3月在胎儿诊断和治疗中心诊断为MMC的所有患者。PVNH由产前和/或产后MRI确定。Bayley婴儿和幼儿发育量表(III或IV版)用于神经发育评估。对患者进行癫痫发作/癫痫筛查。
结果:在产前诊断为MMC的497例患者中,99人在产前MRI上发现PVNH,其中35人在产后影像学检查中证实了PVNH.从497名患者中,398最初在产前MRI上没有表现出异位症,但其中47例证实了出生后的PVNH。PVNH的存在不是儿童早期出生后癫痫发作的重要危险因素。认知异位症组之间的平均神经发育评分没有显着差异,语言,和运动域。
结论:产前诊断为MMC的患者中存在PVNH并不意味着1岁时神经发育迟缓的风险增加。我们没有证明与癫痫发作/癫痫相关。这些发现可以帮助临床医生进行有关开放性脊柱发育不良的胎儿修复的产前咨询。需要进行长期随访,以辨别产前影像学上看到的PVNH与产后癫痫/癫痫和神经发育结果之间的真正关联。
OBJECTIVE: Historically, the presence of gray matter heterotopia was a concern for adverse postnatal neurocognitive status in patients undergoing fetal closure of open spinal dysraphism. The purpose of this study was to evaluate neurodevelopmental outcomes and the onset of seizures during early childhood in patients with a prenatal diagnosis of myelomeningocele/myeloschisis (MMC) and periventricular nodular heterotopia (PVNH).
METHODS: All patients evaluated at the Center for Fetal Diagnosis and Treatment with a diagnosis of MMC between June 2016 to March 2023 were identified. PVNH was determined from prenatal and/or postnatal MRI. The Bayley Scales of Infant and Toddler Development (edition III or IV) were used for neurodevelopmental assessments. Patients were screened for seizures/epilepsy.
RESULTS: Of 497 patients evaluated with a prenatal diagnosis of MMC, 99 were found to have PVNH on prenatal MRI, of which 35 had confirmed PVNH on postnatal imaging. From the 497 patients, 398 initially did not exhibit heterotopia on prenatal MRI, but 47 of these then had confirmed postnatal PVNH. The presence of PVNH was not a significant risk factor for postnatal seizures in early childhood. The average neurodevelopmental scores were not significantly different among heterotopia groups for cognitive, language, and motor domains.
CONCLUSIONS: The presence of PVNH in patients with a prenatal diagnosis of MMC does not indicate an increased risk for neurodevelopmental delay at 1 year of age. We did not demonstrate an association with seizures/epilepsy. These findings can aid clinicians in prenatal consultation regarding fetal repair of open spinal dysraphism. Long-term follow-up is required to discern the true association between PVNH seen on prenatal imaging and postnatal seizures/epilepsy and neurodevelopmental outcomes.