Newborn bloodspot screening is offered to all newborn babies born in Australia. This screen involves pricking your baby’s heel between 48 and 72 hours following birth and putting this blood on a little white card made of special filter paper. Tests are carried out on the blood sample.
The newborn bloodspot screening test can detect a number of serious genetic disorders. Phenylketonuria, Primary Congenital Hypothyroidism, Cystic Fibrosis, Galactosaemia and 30 other rare metabolic disorders are tested for. Early diagnosis and timely treatment with medication or diet can prevent death or serious illness.
Phenylketonuria for example occurs 1 in 10,000 births and if it is diagnosed early a diet that is low in phenylalanine will be recommended and normal development will occur. Without treatment severe brain damage would result.
Newborn bloodspot screening will not be done without your consent. Test results are available within a day or two after the sample has been received in the laboratory. If any of these disorders have been detected in your baby’s blood you will be notified by a health professional. You can presume everything is normal if you hear nothing. Occasionally another test will need to be carried out due to an insufficient or contaminated sample of blood, or an ambiguous result.