Screening Tests for Your New Baby
Almost all babies are born healthy, and only a small number of babies per year, perhaps about 1 in 800, have a hereditary (genetic) health condition.
Mostly, the disorders are inherited from their two healthy carrier parents, each carrying a single copy of an abnormal gene, as well as a healthy copy.
Why is screening a good idea?
- Newborn screening allows a number of serious health conditions to be identified early.
- Early treatment can prevent serious permanent mental and physical disabilities.
- Babies with these health conditions do not show signs or symptoms of illness at birth.
- By the time these conditions become obvious, a baby’s development may already be harmed.
- Newborn screening is a universal practice conducted in many countries around the world.
How is screening done?
You will be offered a free screening test for your new baby, to be performed at or near 48 hours and up to 72 hours after birth. A few drops of blood from a heel-prick are collected onto a screening card which is sent to the SA Pathology Neonatal Screening Centre, located at Women's and Children's Hospital, Adelaide.
Consent
You will be asked to give verbal consent before the sample is collected. If you choose not to have your baby screened, the card will still be filled out but marked "test declined by parents" and sent to the laboratory.
What conditions does the test detect?
The screening test covers over 30 different conditions, most of which are listed in the following table.
| Disorder | Problems if left untreated | Management |
| Congenital hypothyroidism | Unable to produce hormones from the thyroid gland causing growth and mental delay | Thyroid hormone supplements |
| Cystic fibrosis (CF) | Defective gene resulting in abnormal thick secretions which block the lungs and pancreas gland | Physiotherapy, medications, digestive medicine, diet supplements |
| Congenital adrenal hyperplasia (CAH) | Deficiency of certain adrenal hormones, leading to life threatening salt deficiency, low blood glucose and blood pressure if untreated | Adrenal hormone supplements |
| Galactosaemia | Unable to break down sugar compound in milk causing liver failure, mental disability, serious infection | Milk-free diet |
| Amino-acid disorders (e.g. phenylketonuria PKU) | Unable to break down amino acids causing physical and mental developmental delay, seizures | Modified diet and supplements |
| Organic acid disorders | Unable to convert amino acids into energy causing seizures, vomiting, failure to thrive, life-threatening decompensation | Modified diet and supplements |
| Fatty acid oxidation disorders | Unable to convert fat into energy causing low blood glucose, inability to manage fasting, muscle weakness | Avoid fasting, modified diet and supplements |
| Spinal muscular atrophy (SMA) | Defective gene causing muscle weakness, delayed motor development, breathing and swallowing difficulties | Disease modifying drug therapy, supportive physiotherapy |
| Severe combined immune deficiency (SCID) | Genetic disorders of immune system causing high susceptibility to recurrent, life-threatening infections | Bone marrow transplant, therapies to prevent infection |
Should the screening test raise the possibility of one of these conditions, your baby will be referred to a specialist for more exact and specialised diagnostic testing.
Where are the test results sent?
In more than 99% of babies the results are normal and the parents are not notified. However, results are available to the midwife or doctor after about 2 weeks. These results are not sent to “My Health Record”.
Sometimes a repeat bloodspot is needed by the laboratory for a number of reasons, usually because of a sampling problem or due to a short-term elevation in a test result. You will be contacted by your caregiver if this is required and your midwife or doctor will arrange for a recollection.
On rare occasions though, results raise concern about one of the disorders. In this case, a specialist doctor will contact you directly to discuss this and arrange for more in-depth confirmatory testing.
What happens to the bloodspot card?
The SA Neonatal Screening Centre is bound by state regulations relating to privacy and confidentiality that require us to keep your personal information, the test results and the bloodspot screening cards secure.
The cards are kept permanently, and are only available in the event of special circumstances such as but not limited to:
- requested by the family
- for ethics approved health research where all personal information has been removed
- by the SA Neonatal Screening Centre to standardise new tests and methods.
DNA testing
DNA test is performed for certain disorders in newborn screening. This testing is restricted to only that section of DNA known to be linked to the disorder, and no other testing is performed.
Burnside Hospital acknowledges the contribution of SA Pathology to this information.
Disclaimer: This fact sheet provides general information only and is not intended to replace professional medical advice, diagnosis, or treatment. For specific advice regarding your health or medical concerns, please consult your healthcare provider. Burnside Hospital does not accept any responsibility for any loss or damage arising from reliance on the information provided. In case of urgent medical needs, please contact your nearest emergency department.
Created: November 2025 | Reviewed: May 2026