WA Newborn Bloodspot Screening Program

Before a baby can be screened, informed consent must be obtained from the baby’s parent or legal guardian. This involves a midwife or nurse providing information on the test to the family, who can then make a decision about whether the baby will be screened. Once the family has provided their consent, the baby's heel is pricked and a small sample of blood is collected. This usually occurs 48 to 72 hours after birth. The blood sample is then dried and mailed or couriered to the newborn bloodspot screening laboratory, where it is tested for a number of conditions.

If the screening test is abnormal, follow-up testing must be done to confirm a diagnosis. Most infants with abnormal screening results have normal follow-up testing. In these cases, initial screening results may have appeared abnormal because the blood was taken too early or the baby was premature, among many other factors. Once the diagnosis of a condition is confirmed, treatment starts immediately.

Figure 1. The Newborn bloodspot screening pathway

Newborn bloodspot screening in Australia is of a very high quality. However, screening tests are not diagnostic. This means they only indicate whether an infant is at increased risk for a condition in the testing panel. In order to confirm whether an infant with an abnormal screening result actually has the condition, additional diagnostic testing is required.

The WA Newborn Bloodspot Screening Program has various quality assurance, educational and monitoring mechanisms in place to ensure that infants are appropriately screened and that the results are valid. While newborn bloodspot screening has proven reliable for the conditions it aims to detect, as with any laboratory test, false positive and false negative results are possible. For this reason, the possibility of a condition should never be ruled out solely based on the screening results and any signs or symptoms of a condition should be followed up immediately.

All Australian states and territories offer newborn bloodspot screening. The screening programs are guided by the Newborn Bloodspot Screening National Policy Framework 2018 (external site), which outlines the elements needed to successfully deliver newborn bloodspot screening in Australia. The Policy Framework provides advice in the following five areas:

• an overview of the programs, including their aim and objectives
• how the programs are implemented
• what is needed to support high-quality and safe newborn bloodspot screening
• how the programs should be monitored, reviewed and evaluated to ensure they are achieving their aim and objectives, and
• a decision-making process, to enable conditions to be assessed for inclusion in, or removal from, the programs.

The delivery of newborn bloodspot screening is also supported at a national level by the Human Genetics Society of Australasia’s policy on Recommendations for Screening for Specific Disorders (external site).

All State and Territory Health Ministers are involved in the national decision-making for newborn bloodspot screening in Australia. The decision-making process to add or remove conditions from programs currently uses the expertise of the Medical Services Advisory Committee, in line with the Newborn Bloodspot Screening National Policy Framework’s decision-making criteria (external site) . Please note that the Newborn Bloodspot Screening National Policy Framework and decision-making pathway is currently under review. For more information:

• What is screened in the program – Australian Government Department of Health and Aged Care (external site)

The WA Newborn Bloodspot Screening Program activities are overseen by the WA Newborn Bloodspot Screening Committee. For more information, contact: