Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions that can hinder their normal development. This testing is required in every state and is typically performed before the baby leaves the hospital. The conditions included in newborn screening can cause serious health problems starting in infancy or childhood. Early detection and treatment can help prevent intellectual and physical disabilities and life-threatening illnesses.
Screening usually begins with a blood test 24 to 48 hours after a baby is born, while he or she is still in the hospital. In some states, a second blood test is performed at a check-up appointment with the baby's pediatrician when the baby is one to two weeks old. Newborn screening is part of standard care. Parents do not need to request it.
The disorders included in newborn screening vary from state to state. Most states test for the 32 conditions specified by the Health Resources and Services Administration (HRSA) in their Recommended Uniform Screening Panel. Conditions include phenylketonuria (PKU), cystic fibrosis, sickle cell disease, critical congenital heart disease, hearing loss and others. Some states test for additional disorders that are not part of the HRSA panel.
Most of the conditions included in newborn screening can cause serious health problems if treatment is not started shortly after birth.
Prompt identification and management of these conditions may be able to prevent life-threatening complications.
Parents can ask their baby's healthcare provider about expanded (supplemental) screening if they live in a state that screens for a smaller number of disorders. Supplemental screening is typically done by commercial laboratories. It is separate from the testing done by the state, although it often uses a blood sample drawn at the same time.
Source: National Institutes of Health