Prenatal diagnosis of laryngo-tracheo-esophageal anomalies in fetuses with congenital diaphragmatic hernia by ultrasound evaluation of the vocal cords and fetal laryngoesophagoscopy

Background To evaluate the incidence of laryngeal ultrasound (US) abnormalities in fetuses with congenital diaphragmatic hernia (CDH) and to assess the utility of fetal laryngoesophagoscopy for prenatal diagnosis of laryngo-tracheo-esophageal anomalies. Study design A cohort of CDH fetuses with laryngeal ultrasound abnormalities were selected for diagnostic fetal laringoesophagoscopy in a single fetal surgery center at Queretaro, Mexico. Results During the study period, 210 CDH fetuses were evaluated. US examination of the vocal cords was successfully performed in all fetuses, and abnormal ultrasound findings were observed in four cases (1.9%). Fetal laringoesophagoscopy was successfully performed in all four cases at a median gestational age of 29.5 (range, 28.1-30.6) weeks. During fetal intervention, a laryngo-tracheo-esophageal cleft (TEC) extending from the larynx to the carina (type IV) was endoscopically visualized in three cases, and laryngeal atresia coexisting with TEC was confirmed in the remaining case. Fetal karyotype was normal in all cases, but abnormal chromosomal microarray analysis was reported in two cases (50%). All cases were delivered liveborn with severe respiratory failure presenting cardiac arrest and immediate neonatal death. Conclusions Laryngeal anomalies in CDH fetuses can be presumed by ultrasound evaluation of the vocal cords and confirmed by fetal laryngoesophagoscopy during pregnancy.