Definition
Encompasses a range of tests performed within a baby’s first six to eight weeks, including a blood spot test to screen for nine rare but serious health conditions.
Use in clinical context
Newborn screening tests are quick and simple, but they can detect potentially serious conditions and can lead to earlier diagnosis, treatment and improved outcomes for the baby. Many of the conditions that are screened for are genetic, including all of those tested for using the blood spot test.
The screening tests do not test for particular genetic variants, but these may be identified by genomic testing in follow-up investigations. Sometimes genomic testing is to confirm the diagnosis but, in other cases, this may help to refine treatment or guide carrier testing of family members.
