Isolated laryngeal atresia, prenatal diagnosis and pathology. Case report.
D. Nemescu, A. Berescu, D. Scripcaru, M. Onofriescu
Abstract: Congenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Most cases are sporadic with an unknown incidence. We report a case that was diagnosed prenatally at 21 gestational weeks, which showed a typical CHAOS pattern with expanded hyperechogenic lungs, inverted diaphragms, dilated trachea and ascites. There were no other fetal abnormalities and the karyotype was normal (46xy). The parents opted to have an elective termination of pregnancy. Pathological examination confirmed the diagnosis, showing infraglottic atresia (type II) and complete trachea obstruction. The disease is incompatible with life, and antenatal ultrasound diagnosis is advisable. However, few cases have been reported which managed with neonatal interventions such as ex-utero intrapartum treatment.
DOI:10.18643/gieu.2015.66