Diaphragmatic hernia refers to the prolapse of the abdominal organs into the chest cavity through an opening in the diaphragm. This can lead to respiratory and digestive problems. Surgery is often required to repair the hernia and restore normal anatomy. The assessment of the Polygenic Risk Score for diaphragmatic hernia is based on examining 10 gene polymorphisms.
Genetic testing for diaphragmatic hernia is included along with 14 other diseases in the Genetic Screening for Gastrointestinal Diseases, Polygenic Risk Score.
Causes and non-genetic risk factors
Diaphragmatic hernia is a rare anomaly that occurs during fetal development. When the diaphragm fails to develop correctly, abdominal organs can migrate into the chest cavity. The exact cause of its occurrence is unknown, but it is believed to be due to a complex combination of genetic and environmental factors, the former being more important. In addition, 40% of babies born with this condition also have other associated problems.
Symptoms
The most apparent signs when the baby is born are respiratory problems due to ineffective diaphragmatic movement when breathing and possible compression of the lungs. This may result in bluish skin color, rapid breathing, and/or tachycardia.
Prevention
At present, there is no known way to prevent diaphragmatic hernia. Seventy percent of diaphragmatic malformations have no syndromic origin. At the same time, the remaining 30% are associated with other syndromes, so parents could use genetic counseling to prevent the development of these syndromes.
