1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

GP's role

 

1. Provide information about newborn screening to parents prior to delivery.
2. Liaise with testing services if further testing is required or a condition is suspected.

 

Newborn screening

 

1. Newborn screening is a blood test that aims to detect certain rare, genetic and/or metabolic conditions that may be life threatening and/or cause intellectual disability prior to onset of symptoms, with the goal of reducing the effect of the condition on the child through earlier treatment.
2. About 1 per 1000 (0.1%) babies tested will be diagnosed with a condition as a result of newborn screening.
3. Newborn screening is a test provided for all babies free of charge.
4. Blood for testing is collected by heel-prick 48 to 72 hours after birth. The blood is dried onto a newborn screening card.

 

The newborn screening process

1. Verbal agreement is required from the parents of the child before the heel-prick test is performed, and must be recorded in the medical notes.
2. Newborn screening services produce an information pamphlet for parents to consider before their agreement to perform the test is sought. The pamphlet may also be available in languages other than English.
3. When parents raise concerns, the opportunity is provided to discuss the test and address any concerns.
4. If parents refuse to give their consent after this discussion, the test is not performed.

 

Storage of newborn screening cards

1. Newborn screening services store the cards after testing. Name-identified cards may be used for quality assurance, re-testing or research (with parental consent). After a fixed period (dependent on the State/ Territory), cards are destroyed or de-identified for research purposes.

 

Figure 1

The newborn screening (NBS) process

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