Research on Genetic Causes of Congenital Diaphragmatic Hernia Studying Families to Understand and Improve Diagnosis and Treatment

What this Trial Is About

Congenital diaphragmatic hernia CDH is a birth defect where the diaphragm does not form correctly, causing abdominal organs to move into the chest. This research aims to find genes that increase the risk of CDH. By understanding the genetic causes and how they work, the study hopes to improve diagnosis, prevention, and treatment of CDH. The study includes different inheritance patterns and looks at both genetic and environmental factors. The study collects and analyzes DNA from three groups families suitable for genetic linkage analysis, individuals affected with CDH, and healthy individuals without CDH. Participants include neonates and their families from various populations. Researchers use genetic techniques to identify variations in candidate genes linked to CDH. Participants will have their genetic information studied and be followed for developmental outcomes at ages 2 and 5 years, as well as monitoring the presence of pulmonary hypertension. The main goal is to determine the percentage of patients with a genetic diagnosis over five years. This observational study involves no treatment but focuses on genetic and clinical evaluations over time.

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science