Which test is used to detect metabolic disorders in the newborn?

Which test is used to detect metabolic disorders in the newborn?

• A. Urine culture test
• B. Newborn metabolic screening (heel-stick) for metabolic diseases (e.g., PKU)
• C. Glucose tolerance test
• D. Hearing screening

Answer: (B)

Newborn metabolic screening using a heel-stick blood sample is the test designed to detect metabolic disorders early. This screening looks for inborn errors of metabolism, such as phenylketonuria (PKU), by testing a panel of metabolites. Detecting these conditions soon after birth allows immediate interventions—often dietary changes or specific therapies—that prevent serious consequences like intellectual disability or organ damage. The procedure is quick and done after the baby has fed, with the blood spots mailed to a lab for analysis; it’s a screening test, and abnormal results lead to follow-up diagnostic testing. Other tests serve different purposes: urine culture checks for infections, glucose tolerance tests assess how the body handles glucose, and hearing screening evaluates auditory function. None of these are designed to screen for metabolic disorders in newborns.

Newborn metabolic screening using a heel-stick blood sample is the test designed to detect metabolic disorders early. This screening looks for inborn errors of metabolism, such as phenylketonuria (PKU), by testing a panel of metabolites. Detecting these conditions soon after birth allows immediate interventions—often dietary changes or specific therapies—that prevent serious consequences like intellectual disability or organ damage. The procedure is quick and done after the baby has fed, with the blood spots mailed to a lab for analysis; it’s a screening test, and abnormal results lead to follow-up diagnostic testing.

Other tests serve different purposes: urine culture checks for infections, glucose tolerance tests assess how the body handles glucose, and hearing screening evaluates auditory function. None of these are designed to screen for metabolic disorders in newborns.