Department of Woman and Child Health and Public Health, Child Health Area; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Largo A. Gemelli 8, 00168, Rome, Italy.
Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Roma, Italy.
Ital J Pediatr. 2020 Jul 10;46(1):96. doi: 10.1186/s13052-020-00861-0.
Tracheal agenesis (TA) is a rare disorder usually diagnosed prenatally when a congenital high airway obstruction syndrome (CHAOS) is identified. We present a case of unexpected TA in a neonate without prenatal diagnosis of airway obstruction, with a difficult management at birth. Moreover, we discuss about differential diagnosis, classification and treatment issues.
A 2280 g female neonate was born at 35 week gestational age (GA) with prenatal diagnosis of aortic coarctation, polyhydramnios and diffuse hyperechogenicity of the right lung. At birth, the neonate had no audible cry, no air entry to the lungs, and hypotonia. Tracheal intubation was unsuccessful, and no visualization of the trachea was obtained when tracheostomy was attempted. Post-mortem examination showed tracheal agenesis associated with tracheoesophageal fistula and revealed no cardiologic malformations. Aortic coarctation had been suspected prenatally because of the first portion of the descendent thoracic aorta being compressed by a fibrous band connecting the proximal and distal tracheal branches. CHAOS had not developed due to the tracheoesophageal fistula (TOF).
TA is not always diagnosed in the fetus and it may present unexpectedly making the neonate's management at birth critical. An effective rescue temporary oxygenation may be obtained with mask ventilation or oesophageal intubation in those cases of TA associated with a TOF. We suggest to consider a fetal magnetic resonance imaging (MRI) when the association polyhydramnios/lung hyperechogenicity occurs, even in the absence of CHAOS or other malformations. Once a diagnosis is provided, the mother should be transferred to selected centres where an ex-utero intrapartum procedure (EXIT) can be attempted. Moreover, despite high mortality, different surgical management are described to improve survival.
气管发育不全（TA）是一种罕见的疾病，通常在产前诊断为先天性高位气道阻塞综合征（CHAOS）时发现。我们报告了一例在无产前气道阻塞诊断的新生儿中发生的意外 TA，出生时的处理较为困难。此外，我们还讨论了鉴别诊断、分类和治疗问题。
一名 2280 克的女性新生儿于 35 周妊娠（GA）时出生，产前诊断为主动脉缩窄、羊水过多和右肺弥漫性回声增强。出生时，新生儿无哭声，肺部无空气进入，且出现低张力。气管插管未成功，尝试行气管切开术时也未能观察到气管。尸检显示存在气管发育不全，同时合并气管食管瘘，且无心脏畸形。由于连接近端和远端气管分支的纤维带压迫降胸主动脉的第一段，产前怀疑存在主动脉缩窄。由于气管食管瘘（TOF）的存在，未发生 CHAOS。
TA 并非总是在胎儿中诊断，也可能意外出现，导致新生儿出生时的处理至关重要。对于伴有 TOF 的 TA 病例，可通过面罩通气或食管插管获得有效的临时氧气救援。我们建议，即使不存在 CHAOS 或其他畸形，当羊水过多/肺回声增强并存时，应考虑对胎儿进行磁共振成像（MRI）检查。一旦提供诊断，应将母亲转至选定的中心，尝试进行子宫外产时宫外处理（EXIT）。此外，尽管死亡率较高，但已描述了不同的手术管理方法，以提高存活率。
