In congenital diaphragmatic hernia (CDH), the diaphragm does not develop properly so that abdominal organs herniate into the thoracic cavity. This malformation is associated with lung hypoplasia of varying degrees and pulmonary hypertension. These are the main reasons for mortality. CDH can also be associated with other congenital anomalies (e.g. cardiac, urologic, gastrointestinal, neurologic) or with various syndromes (trisomy 13, trisomy 18, Fryns syndrome, Cornelia-di-Lange syndrome, Wiedemann-Beckwith syndrome and others). This malformation may be detected by prenatal ultrasound or MRI investigation. There are several parameters which correlate prenatal findings with postnatal survival, need for ECMO therapy, need for diaphragmatic reconstruction with a patch and the development of chronic lung disease. These findings include: observed-to-expected lung-to-head ratio on prenatal ultrasound, relative foetal lung volume on MRI and intrathoracic position of liver and/or stomach in left-sided CDH.
Depending on the severity of the disease, treatment can be challenging for neonatologists, paediatric surgeons and anaesthesiologists as well.