产前超声联合MRI对一穴肛畸形的诊断价值

Diagnostic value of prenatal ultrasound combined with MRI in fetal cloacal malformations

  • 摘要: 目的 总结胎儿一穴肛畸形(CM)产前超声及MRI的图像特征。 方法 回顾性分析经产前系统超声初筛疑似CM的8例胎儿的临床影像资料,并与出生或引产后结果进行对照,总结其产前影像学特征,追踪胎儿妊娠结局。 结果 经产后或引产后证实CM 5例,均于孕晚期发现,产前超声误诊3例,产前MRI漏诊1例。产前超声主要表现为肛门闭锁(5例)、盆腹腔中线位置囊肿(4例)、外生殖器模糊(3例)、双肾积水(3例)、肠管扩张(2例)、肠管回声增强(1例)。产前MRI检查示直肠未探及粪便高信号影(4例)、盆腹腔囊状信号影(4例)。孕妇引产2例,活产3例。5例CM胎儿会阴部仅有一个开口,肛门闭锁,外生殖器为女性外观,2例术中见三腔室汇合成1个共同通道开口于会阴。 结论 肛门闭锁、盆腹腔中线部位囊肿是CM产前超声的特征性表现,当提示外生殖器异常、泌尿系统积水及肠道钙化斑时有助于诊断CM。MRI较超声更能清晰显示盆腔三个腔室之间的关系及直肠情况。

     

    Abstract: Objective To illustrate the imaging features of fetal cloacal malformations (CM) by ultrasound combined with magnetic resonance imaging (MRI). Methods Clinical imaging characteristics of 8 fetuses suspected with CM by prenatal systematic ultrasound screening were retrospectively analyzed, and compared with the postpartum results. Prenatal imaging characteristics were summarized. Fetal and pregnant outcomes were recorded. Results Five cases who were diagnosed with CM at the third trimester were confirmed after labor or induced labor, 3 cases were misdiagnosed by prenatal ultrasound and 1 case was missed by prenatal MRI, respectively. Prenatal ultrasound characteristics mainly consisted of anal atresia (n = 5), pelvic abdominal cyst (n = 4), ambiguous genitalia (n = 3), intestinal dilation (n = 2) and intestinal echo enhancement (n = 1), respectively. Three cases were complicated with urinary hydrops. Prenatal MRI showed no high fetal signal in the rectum (n = 4), abdominal cysts (n = 4). Two pregnant women chose induced labor and 3 cases of live birth. Five CM fetuses were manifested with only 1 opening in the perineum, anal atresia and female appearance of external genitalia. Intraoperatively, 3 pelvic cavities converged into a common opening in the perineum in 2 cases. Conclusions Anal atresia and cystic mass in the midline of pelvic-abdominal cavity are the common prenatal imaging features of CM. The possibility of CM should be considered in the differential diagnosis in any fetus presenting with ambiguous genitalia, hydronephrosis and calcified meconium. MRI can more explicitly show the relationship among three pelvic cavities and the rectum.

     

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