This rare birth defect is characterized by incomplete closure of the diaphragm and herniation of fetal abdominal organs into the chest. This can lead to postnatal pulmonary hypertension and pulmonary hypoplasia because of vascular remodeling and cardiac dysfunction. The actual cause of this disease is still not known. Studies show that one-third of such cases are of polygenic origin. A routine ultrasound may help in the detection of the disease, which is further confirmed by genetic testing.
The disease can also be diagnosed after birth, when the baby faces troubled breathing. Fetal therapeutic procedures are mostly recommended in such pregnancies. ##Disclaimer## The content provided on Docplexus is intended for educational purposes only. While we strive to ensure its accuracy, we make no warranties, explicit or implied, about the suitability, reliability, or adequacy of the…
