Newborn Screening

NEWBORN SCREENING

Newborn screening programs, which should be available to all newborns, include tests designed to detect infants with specific conditions who may benefit from early diag-nosis and treatment. These conditions include disorders of metabolism, endocrinopathies, hemoglobinopathies, hear-ing loss, and cystic fibrosis. The tests may also identify par-ents who are carriers of inherited conditions.

To obtain a sample for testing, heel stick-derived blood is collected and placed onto filter paper. If the initial sample is collected before 12 to 24 hours after delivery, a second sample should be collected at 1 to 2 weeks of age to decrease the probability that phenylketonuria and other disorders with metabolite accumulation are missed as a result of early testing. Premature infants, neonates receiv-ing parenteral feeding, or those treated for illness should have a newborn screening test performed at or near 7 days of age, regardless of feeding status.

Each state must have a system in place for notification, timely follow-up, and evaluation of any infant with a posi-tive screening result. Positive results are usually reported to the newborn’s primary care provider and the parents