Modern approaches to the diagnosis and treatment of congenital diaphragmatic hernia in children: A literature review

Congenital diaphragmatic hernia (CDH) in children is a severe congenital disorder whose clinical course is determined not only by the presence of a diaphragmatic defect but also by the degree of pulmonary hypoplasia, persistent pulmonary hypertension, and associated congenital anomalies. Despite advances in prenatal diagnosis, neonatal intensive care, and modern surgical technologies, the management of neonates with severe forms of CDH remains challenging, and optimal approaches to prognostic assessment and treatment selection continue to evolve. OBJECTIVE. To systematize and critically analyze current evidence regarding the etiology, pathogenesis, diagnosis, treatment, and prognosis of congenital diaphragmatic hernia in children based on the principles of evidence-based medicine. MATERIALS AND METHODS. A systematic search, content analysis, descriptive analysis, and comparative analysis of current scientific literature, systematic reviews, meta-analyses, multicenter clinical studies, international guidelines, and consensus documents on CDH were performed. The search was conducted in the PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar databases. Publications addressing the pathogenesis, prenatal and postnatal diagnosis, intensive care, surgical treatment, and prognostic assessment of CDH were included in the analysis; more than 90 sources were reviewed at the initial stage. RESULTS. The main prognostic factors in CDH were found to include the degree of pulmonary hypoplasia, severity of pulmonary hypertension, size of the diaphragmatic defect, intrathoracic liver position, and presence of associated congenital anomalies. Current prenatal diagnosis is based on ultrasonography with assessment of the lung-to-head ratio (LHR) and observed-to-expected LHR (O/E LHR), supplemented by fetal magnetic resonance imaging (MRI) to determine lung volume and anatomical characteristics. The fundamental principle of postnatal management is “stabilization before operation,” including early intubation, gentle ventilation, gastric decompression, management of pulmonary hypertension, and, when indicated, high-frequency ventilation, inhaled nitric oxide, and extracorporeal membrane oxygenation (ECMO). Surgical repair is performed after cardiorespiratory stabilization has been achieved. Thoracoscopic and laparoscopic techniques may be used in stable patients, whereas the choice of repair technique is determined by the size of the defect and the availability of native diaphragmatic tissue. Promising areas of development include fetoscopic endoluminal tracheal occlusion (FETO), advances in minimally invasive technologies, biocompatible materials, and personalized treatment approaches. CONCLUSIONS. Current management of congenital diaphragmatic hernia in children should be based on a comprehensive multidisciplinary approach involving early prenatal diagnosis, prognostic assessment, and stabilization of the neonate prior to surgical repair. The combination of modern intensive care strategies, minimally invasive surgery, ECMO, and selective use of FETO expands the therapeutic options for severe forms of CDH. Further research is needed to refine prognostic models, standardize indications for fetal and extracorporeal therapies, and improve long-term treatment outcomes.