What test is used as a newborn screening for Cystic Fibrosis?

The test used as a newborn screening for Cystic Fibrosis is the immunoreactive trypsinogen (IRT) test. This test measures the levels of IRT, a pancreatic enzyme, in the blood of newborns. Elevated levels of immunoreactive trypsinogen can indicate the possibility of Cystic Fibrosis, prompting further confirmatory testing.

Newborn screening is essential for early detection and management of Cystic Fibrosis, allowing for timely interventions that can help improve the child’s health outcomes. While the sweat chloride test is a definitive diagnostic test used to confirm Cystic Fibrosis after initial screening, it is not typically used for routine newborn screening. Hemoglobin electrophoresis is relevant for diagnosing blood disorders such as sickle cell disease, and genetic sequencing is used for identifying specific mutations but is not generally employed as a first-line newborn screening tool. Therefore, the immunoreactive trypsinogen test is the critical initial step in identifying potential cases of Cystic Fibrosis in newborns.