王华铭,辜秋阳,刘新秀,叶真,王文华,韦娟冰,陈玲,阮琴韵.产前超声诊断脊髓拴系综合征[J].中国医学影像技术,2021,37(1):91~94 |
产前超声诊断脊髓拴系综合征 |
Prenatal ultrasonic diagnosis of tethered cord syndrome |
投稿时间:2019-11-18 修订日期:2020-05-16 |
DOI:10.13929/j.issn.1003-3289.2021.01.021 |
中文关键词: 神经管缺陷 脊髓圆锥 产前诊断 超声检查 |
英文关键词:neural tube defects conus medullaris prenatal diagnosis ultrasonography |
基金项目:福建省科技厅引导性项目(2016Y0038)。 |
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中文摘要: |
目的 观察产前超声定位胎儿脊髓圆锥的价值,评价其诊断胎儿脊髓拴系综合征(TCS)的准确率及临床意义。方法 10胎产前超声诊断TCS,后经新生儿脊柱超声、MRI或尸检证实;与羊膜腔穿刺及羊水细胞染色体核型检查结果相对照,回顾性观察其超声表现,判断脊髓圆锥下缘位置及有无合并症。结果 10胎脊髓圆锥位置均低于L3水平,均合并椎体或椎管内异常,其中4胎合并椎管外复杂畸形。4胎接受染色体核型分析,2胎为18-三体综合征合并复杂畸形,2胎核型正常。结论 脊髓圆锥下缘低于L3水平是产前超声诊断TCS的重要线索;发现TCS胎儿合并脊柱外结构异常等复杂畸形时,应行遗传学检测。 |
英文摘要: |
Objective To observe the value of prenatal ultrasound for positioning fetal conus medullaris, and to evaluate its accuracy and clinical significances of fetal tethered cord syndrome (TCS). Methods Ten fetuses were diagnosed TCS with prenatal ultrasound and were then confirmed by neonatal spinal ultrasound and MRI or autopsy. The ultrasonic features were retrospectively observed, and the location of the cones medullaris and complications were defined comparing with results of amniocentesis and chromosome karyotype of amniotic fluid cells. Results The location of the conus medullaris were lower than L3 level in all 10 fetuses. All 10 fetuses were found with abnormalities of vertebral body or spinal canal, while 4 with complex deformities outside the spinal canal. Chromosomal karyotype analysis was performed for 4 fetuses, 2 of them had trisomy 18 with complex malformations, while the rest 2 were normal. Conclusion The location of the conus medullaris lower than L3 level was an important clue to diagnose fetal TCS. When TCS fetus was found with complicated deformities, genetic testing should be performed. |
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