MRI诊断胎儿尾部退化综合征

MRI in diagnosis of fetal caudal regression syndrome

目的评价MRI诊断胎儿尾部退化综合征(CRS)的价值。方法回顾性分析14胎经产前MRI诊断、顺产出生后或引产证实的CRS胎儿产前MRI表现,随访妊娠结局,评估MRI诊断胎儿CRS的价值。结果14胎中,13胎骶尾椎缺失(3胎合并腰椎半椎体),1胎胸椎下段椎体缺失;6胎脊髓圆锥低位,3胎脊髓圆锥圆钝,1胎脊髓高位缺失,4胎脊髓圆锥位置形态正常。14胎均合并肛门闭锁,表现为T1WI直肠远端腔内未见高信号;9胎合并肾脏畸形,包括3胎合并马蹄肾,3胎合并肾积水,2胎双肾发育不良,1胎肾脏、膀胱未显示;3胎合并下肢异常,包括2胎双下肢发育不良及1胎并腿畸形。随访显示3胎足月顺产出生,11胎引产,均证实为CRS。结论产前MRI有助于准确诊断胎儿CRS,为产前咨询和选择合理治疗方式提供依据。

Objective To observe the value of MRI in the diagnosis of fetal caudal regression syndrome(CRS). Methods MRI findings of 14 fetuses diagnosed CRS with prenatal MRI and confirmed by after vaginal birth or labor induction were retrospectively analyzed. The outcomes of CRS fetuses were followed up, and the value of MRI for diagnosing CRS was evaluated. Results Among 14 fetuses, 13 were found with sacral coccygeal absence(3 with lumbar hemivertebra) and 1 with lower thoracic vertebra absence. The conus medullaris was low in 6 fetuses, round and blunt in 3 fetuses, high and absence in 1 fetus, which remained normal in the rest 4 fetuses. Complicated anal atresia was observed in all 14 fetuses, and MRI showed no high signal in the distal rectal cavity on T1 WI. Combining renal malformations were noticed in 9 fetuses, including 3 fetuses with horseshoe kidney, 3 with hydronephrosis, 2 with double renal dysplasia and 1 without kidney nor bladder. Combining abnormalities of lower extremities were found in 3 fetuses, including 2 with dysplasia of lower extremities and 1 with sirenomelia. During follow-up, 3 fetuses were born at full term and 11 were labor induction, and CRS was all confirmed. Conclusion MRI was helpful to accurate diagnosis of CRS, which might provide basis for prenatal consultation and reasonable treatment.