产前超声诊断脊髓拴系综合征

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...

Prenatal ultrasonic diagnosis of tethered cord syndrome

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.