Multidisciplinary approach to congenital central hypoventilation syndrome during pregnancy: case report

Congenital central hypoventilation syndrome is a rare genetic disorder that affects control of breathing caused by variants in the paired-like homeobox 2B (PHOX2B) gene. During pregnancy, women with congenital central hypoventilation syndrome are at risk for hypoventilation and require frequent assessments of oxygenation and ventilation during wakefulness and sleep on their ventilator. This could potentially lead to adjustments in the ventilator settings or a change in the assisted ventilation modality. We report the case of a 31-year-old pregnant woman with congenital central hypoventilation syndrome and an implanted cardiac pacemaker who underwent prenatal genetic testing for congenital central hypoventilation syndrome and who delivered a healthy newborn by cesarean delivery. She received collaborative multidisciplinary care from a team that included specialists in obstetrics, maternal and fetal medicine, medical genetics, sleep and pulmonary medicine, cardiology, and anesthesiology. She used bilevel positive airway pressure therapy throughout pregnancy and after cesarean delivery without requiring adjustments in the bilevel positive airway pressure settings. Our case highlights the importance of multidisciplinary care in women with congenital central hypoventilation syndrome during pregnancy to optimize pregnancy and fetal outcomes.