Congenital diaphragmatic hernia (CDH) is a birth defect that results from incomplete development of the diaphragm during fetal growth. It is a severe condition that is associated with respiratory failure in newborns and requires intensive medical care. CDH is also the most costly pediatric surgical condition in the United States. The incidence of CDH varies, but it has a high mortality rate, especially in low-income countries.
The main characteristic of CDH is the entry of abdominal organs into the chest cavity, which hampers proper lung development. Infants with CDH often have pulmonary hypoplasia, delayed lung maturation, and abnormalities in pulmonary blood vessels. These conditions contribute to the mortality and long-term morbidity associated with CDH. Recent research has also identified ventricular dysfunction as a significant factor in CDH.
Early diagnosis and proper management of CDH are crucial for improving patient outcomes. Amniotic fluid analysis can provide insights into the mechanisms of CDH and offer biomarkers for early diagnosis, evaluation of severity, and treatment response. Amniotic fluid is a combination of fetal and maternal proteins and changes in its composition can reflect fetal development and anomalies.
A recent study aimed to identify proteomic changes in amniotic fluid that are consistently associated with CDH. Researchers analyzed amniotic fluid samples collected at term from women with healthy pregnancies and those carrying fetuses with CDH. After protein depletion and analysis using mass spectrometry, they identified 218 differentially abundant proteins out of 1036 identified proteins. Bioinformatics analysis indicated significant changes in signaling pathways related to cardiovascular system development, connective tissue disorders, and dermatological conditions.
The study also validated the differences in selected proteins, such as pulmonary surfactant protein B, osteopontin, kallikrein 5, and galectin-3, using additional samples. These proteins showed statistically significant differences and could potentially aid in the diagnosis and prediction of CDH.
Overall, this research provides valuable insights into the proteomic changes associated with CDH and offers potential tools for the clinical management of this condition.
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