Screening can identify a number of rare but serious medical conditions, where early detection and intervention can save lives or provide other benefits to the newborn.
Traditionally, conditions included in the program are based on the ability of clinicians to intervene early to avoid death, disability or other harm. With the advancement of genetic technology, there is some interest in expanding newborn screening panels to include a wider range of conditions.1–3
Newborn screening is optional in Australia,1 and research suggests participation is very high.4 Screening occurs two to three days after birth, and is usually arranged by midwives. In general, parents are not contacted when screening results are normal.
About 1–2% of babies tested require repeat or subsequent diagnostic testing. Screening programs in each state and territory are usually responsible for following up cases that require further testing. About one per 1000 (0.1%) babies tested will be diagnosed with a condition because of newborn screening.
Refer to Table 1 for a list of conditions currently included in newborn screening programs in Australasia.
Conditions screened in newborn screening programs in Australasia1,3