Prenatal Diagnosis and Management of Congenital Tracheal Stenosis

Abstract

A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks' gestation. At 24 weeks, ultrasound revealed gastrointestinal malformations, a persistent left superior vena cava, and polyhydramnios. At 29 weeks, prenatal magnetic resonance imaging (MRI) showed tracheal atresia or stenosis, a tracheoesophageal fistula, distal duodenal atresia, polyhydramnios, and polydactyly (Figure 1a–d). The patient delivered a male infant via cesarean on 6 August 2020. Computed tomography confirmed the prenatal findings (Figure 1e–h), but the infant died 3 h after birth. Autopsy revealed polydactyly, severe tracheal stenosis, esophageal atresia, a tracheoesophageal fistula, and distal duodenal atresia.

Congenital tracheal stenosis (CTS) is a rare condition, occurring in approximately 1 in 64,500 live births and often associated with complete tracheal rings or syndromic conditions, such as VACTERL Isolated CTS accounts for only 10%–30% of cases, with most involving cardiopulmonary anomalies and gastrointestinal malformations, leading to a mortality rate exceeding 70%. Prenatal MRI, particularly FIESTA and SSFSE sequences, effectively delineates tracheal, bronchial, and surrounding structures aiding diagnosis. CTS primarily affects the upper trachea, with T2-weighted imaging revealing partial stenosis or absence, often with a tracheoesophageal fistula, gastrointestinal obstruction, and cardiopulmonary anomalies. T1- and T2-weighted imaging may also show gastrointestinal dilatation (e.g., the “double bubble sign”). These imaging techniques are critical for prenatal diagnosis and clinical decision-making. CTS often presents as a life-threatening emergency, with management complicated by its diverse manifestations and associated anomalies. Optimal outcomes occur in specialized centers with multidisciplinary expertise, with slide tracheoplasty as the preferred treatment.

Prenatal MRI is pivotal in diagnosing fetal CTS, aiding obstetricians in prenatal and perinatal management.

Guohui Yan: conceptualization (lead), funding acquisition (lead), investigation (lead), methodology (equal), resources (equal), supervision (equal), writing – original draft (lead). Weizeng Zheng: conceptualization (equal), data curation (equal), resources (equal). Yongqing Zhang: data curation (equal), investigation (equal), resources (equal). Yu Zou: data curation (lead), formal analysis (lead), investigation (lead), resources (lead), writing – review and editing (lead).

The present study was approved by the Institutional Review Board of Women's Hospital, Zhejiang University School of Medicine (Approval number: IRB-20210026-R).

Informed consent was waived for this retrospective study due to the inherent challenges in recontacting participants, in accordance with ethical guidelines governing research involving de-identified medical records.

The authors declare no conflicts of interest.