What is the purpose of the neonatal heel prick test?

The neonatal heel prick test, also known as the newborn screening test, primarily serves the purpose of identifying certain metabolic and genetic disorders shortly after birth. This test is crucial in detecting conditions that could lead to serious health issues if not addressed early in life.

Congenital hypothyroidism and phenylketonuria (PKU) are among the key disorders screened for through this test. Congenital hypothyroidism can lead to severe developmental delays and cognitive impairment if not treated promptly with thyroid hormone replacement. PKU is a metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to harmful levels of phenylalanine in the blood, which can also cause neurological damage if not managed through dietary changes early in life.

While other choices may pertain to important aspects of neonatal health, the heel prick test is specifically designed to identify these metabolic and genetic conditions in newborns. This early identification allows for timely interventions that can prevent significant morbidity and improve long-term outcomes for affected infants.