无包块型闭合性脊柱裂的产前超声诊断  

Diagnosis of fetal closed spina bifida without subcutaneous mass with prenatal ultrasound

作　　者：杜星星 刘俊 梁喜 张大娟 肖建平 Du Xingxing;Liu Jun;Liang Xi;Zhang Dajuan;Xiao Jianping(Department of Ultrasound,Women's Hospital of Jiangnan University(Wuxi Maternal and Child Health Hospital),Wuxi 214002,China;Prenatal Diagnostic Center,Women's Hospital of Jiangnan University(Wuxi Maternal and Child Health Hospital),Wuxi 214002,China)

机构地区：[1]江南大学附属妇产医院(无锡市妇幼保健院)超声科,无锡214002 [2]江南大学附属妇产医院(无锡市妇幼保健院)产前诊断中心,无锡214002

出　　处：《中华围产医学杂志》2023年第3期225-229,共5页Chinese Journal of Perinatal Medicine

基　　金：无锡市科技发展资金(WX18IIAN028)。

摘　　要：目的探讨胎儿无包块型闭合性脊柱裂的产前超声图像特点及预后。方法回顾性选取2016年10月至2022年2月在江南大学附属妇产医院产前超声诊断的9例无包块型闭合性脊柱裂胎儿,采用描述性统计分析产前超声特征、MRI与产前超声比较、遗传学检查结果以及结局/生后随访等。结果9例无包块型闭合性脊柱裂均经MRI或引产后X射线检查或引产后超声检查或新生儿手术证实。4例尾端退化综合征,表现为骶尾骨不同程度的缺失,且均合并其他畸形;2例皮毛窦,表现为皮下低回声窦道与椎管相连;2例终丝脂肪瘤,表现为椎管内高回声团;1例脊髓纵裂,表现为椎管内短线状强回声及双脊髓回声,且合并蝴蝶椎。7例脊髓圆锥位置低,1例脊髓圆锥位置正常,1例脊髓圆锥显示不清。2例(1例皮毛窦、1例终丝脂肪瘤)出生后经手术治疗未出现明显并发症,生长发育正常;1例胎死宫内;6例引产。结论无包块型闭合性脊柱裂的胎儿具有特征性超声声像图特征,对椎管内脊髓回声的观察可以提高无包块型闭合性脊柱裂的产前检出率;同时合并畸形将影响其预后,产前超声可为预后咨询及生后治疗提供依据。Objective To investigate the prenatal ultrasound findings and clinical prognosis in fetal closed spina bifida without subcutaneous mass.Methods This retrospective study included nine fetuses diagnosed with closed spina bifida without subcutaneous mass by prenatal ultrasound in Women's Hospital of Jiangnan University from October 2016 to February 2022.Descriptive analysis was used to summarize the ultrasonographic features,MRI findings,genetic testing results,pregnancy outcomes and follow-up data.Results The diagnosis of fetal closed spina bifida without subcutaneous mass was confirmed in all cases by MRI,X-ray examination or ultrasound after termination or neonatal surgery.Four cases presenting with various degrees of sacral vertebra defects had caudal regression syndrome complicated by other malformations.Two cases had dermal sinus,presenting with subcutaneous hypoechoic sinus tract connecting to the spinal canal.Lipoma terminalis were found in two fetuses who presented with intraspinal hyperechoic mass.One fetus with diastematomyelia showed short linear strong echoes and double spinal cord echoes in the spinal canal with butterfly vertebrae.The location of the conus medullaris was lower in seven cases and normal in one fetus.The other one case had unclear position of the conus medullaris.No postoperative complications occurred in the two cases(one with dermal sinus and one with lipoma terminalis)receiving postnatal surgery and both infants grew and developed normally.Fetal death occurred in one case and six pregnancies were terminated.Conclusions Closed spina bifida without subcutaneous mass typically has ultrasonographic features.Detection of spinal cord echoes in the spinal canal can improve the prenatal detection rate.Whether it is complicated with malformation affects its prognosis.Prenatal ultrasound diagnosis may provide information for prognosis consultation and postpartum treatment.

关 键 词：隐性脊柱裂 脊髓 超声检查 产前 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]