What disorders are included in newborn screening? - Genetics Home Reference

What disorders are included in newborn screening? - Genetics Home Reference

What disorders are included in newborn screening?

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. These 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.

To find out more about the disorders included in newborn screening:

The Health Resources and Services Administration (HRSA) lists all of the disorders in its Recommended Uniform Screening Panel.

These resources list the disorders included in each state’s newborn screening panel:

• Baby’s First Test: Conditions Screened by State
• National Newborn Screening & Global Resource Center: Newborn Screening by State

Additional information about supplemental newborn screening is available:

• Baby’s Baby’s First Test: What is additional screening?
• National Newborn Screening & Global Resource Center: Commercial and Non-Profit Organizations Offering Expanded Newborn Screening Tests