Fetal Care Center of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Pediatr Radiol. 2013 Oct;43(10):1385-90. doi: 10.1007/s00247-013-2679-0. Epub 2013 Apr 9.
Tracheal agenesis is a rare and essentially lethal anomaly with divergent prenatal imaging findings depending on the presence or absence of a tracheoesophageal fistula. All prenatally diagnosed cases of tracheal agenesis reported to date have not had a tracheoesophageal fistula and presented with thoracoabdominal findings similar to congenital high airway obstruction syndrome. We present the case of a 32-week gestation fetus with rapid onset of polyhydramnios and no persistent findings of congenital high airway obstruction syndrome that was ultimately diagnosed with tracheal agenesis plus tracheoesophageal fistula by fetal MRI. Additionally, we present the novel uses of intraoperative US during a staged ex utero intrapartum therapy delivery and postdelivery MRI, facilitated by proximity within the neonatal ICU, to confirm diagnosis and direct patient management while minimizing unnecessary investigations.
气管发育不全是一种罕见的、基本上致命的异常，其产前影像学表现因是否存在气管食管瘘而不同。迄今为止，所有经产前诊断的气管发育不全病例均无气管食管瘘，表现为与先天性高位气道梗阻综合征相似的胸腹部表现。我们报告了一例 32 周妊娠胎儿，其羊水过多迅速发生，且无先天性高位气道梗阻综合征的持续表现，最终通过胎儿 MRI 诊断为气管发育不全伴气管食管瘘。此外，我们还介绍了在新生儿 ICU 内临近的情况下，术中 US 在分期宫外产时治疗分娩和产后 MRI 中的新应用，以确认诊断并指导患者管理，同时尽量减少不必要的检查。
