泄殖腔外翻脊柱畸形的产前超声诊断

Prenatal ultrasonographic diagnosis of spinal deformity of cloacal exstrophy

目的探讨产前超声诊断泄殖腔外翻(OEIS综合征)脊柱畸形的价值。方法收集我院经尸体解剖确诊的29胎OEIS综合征脊柱畸形,分析OEIS综合征脊柱畸形的产前超声声像图,并与产后尸体解剖检查、尸体X线表现进行对照研究。结果尸体解剖检查证实29胎OEIS脊柱畸形均为闭合性脊柱裂,其中26胎经产前超声检出。24胎有包块型脊柱裂均发生于骶尾部,其中9胎脊膜膨出,12胎脊髓脊膜膨出,3胎脂肪脊髓脊膜膨出;16胎合并脊髓栓系、11胎合并脊柱侧弯、3胎骶尾椎发育不良、4胎合并椎体畸形;2胎包块较大脊柱裂的颅后窝消失。2胎无包块型脊柱裂的产前超声显示存在脊髓栓系。尸体解剖检查证实产前超声所见,发现漏诊3胎有脊髓栓系的无包块型脊柱裂。尸体解剖检查及尸体X线发现29胎均有骶尾椎发育不良。结论 OEIS综合征脊柱畸形常为骶尾部有包块型闭合型脊柱裂,颅脑声像多正常,可合并脊髓栓系、脊柱侧弯、椎体异常。产前超声对OEIS综合征有包块型脊柱裂的检出率高;OEIS综合征无包块型脊柱裂的产前超声可检出脊髓栓系。

Objective To explore the prenatal ultrasonographic diagnostic significance of spinal deformity in omphalocele exstrophy imperforate anus spinal defects （OEIS） complex. Methods All of 29 fetuses with spinal deformity of OEIS complex were diagnosed by pathological anatomy. The comparative study was performed on the prenatal ultrasonic images and postpartum autopsy, X-tablets of cadavers. Results Autopsy confirmed that 29 fetuses of OEIS complex spinal deformity were closed spinal bifida, 26 fetuses were detected by prenatal ultrasound; 24 fetuses of spina bifida occured in sacrococcygeal had masses, which 9 fetuses were with meningocele, 12 fetuses were with myelomeningocele, 3 fetuses were with fat meningomyelocele prolapse; 16 fetuses combined with tethered cord, 11 fetuses combined with scoliosis, 3 fetuses combined with lumbosacral dysplasia, 4 fetuses combined with vertebral deformity; posterior fossa disappeared in 2 fetuses with large masses bulging of the spina bifida. The prenatal ultrasound imaging of 2 fetuses of spina bifida manifesta were performed tethered cord. The autopsy confirmed the prenatal ultrasound findings, and found that the missed diagnosis of 3 fetuses of spina bifida manifesta with tethered cord. All fetuses had sacrococcygeal vertebral dysplasia confirmed by autopsy and X-tablets of cadavers. Conclusion The spinal deformity of OEIS complex are usually closed spina bifida with a mass bulging in the sacrum, and the brain imaging is more normal, it can be combined with tethered cord, scoliosis and vertebral abnormalities. Prenatal ultrasound diagnosis of spina bifida manifesta of OEIS complex has high detection rate. Prenatal ultrasound diagnosis of spina bifida occulta of OEIS complex can detect the tethered cord.