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Chapter: Obstetrics and Gynecology: Immediate Care of the Newborn

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.

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

 

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Obstetrics and Gynecology: Immediate Care of the Newborn : Newborn Screening |


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