Newborn Screening Test (NBS)

Newborn screening involves testing infant to enable early detection of treatable metabolic disorders so that infants can be identified and treated before problems occur. The range of diseases which are tested for are not clinically obvious at birth, but unless treated early they can cause damage. Screening is the first step in a two step process. The first screening test indicates a problem MAY be present, and then a second diagnostic test confirms whether or not the problem or disease is truly present.

The following disorders can be detected by the newborn screen

  • Phenylketonuria
  • Congenital Hypothyroidism
  • Galactosaemia
  • Cystic Fibrosis
  • Amino Acid Disorders
  • Fatty Acid Oxidation Disorders
  • Organic Acid Disorders

Testing is offered to all Infants at 48-72 Hours of Age.

All infants that are discharged home prior to 48 hours of age are offered this test at follow-up.

All infants that require a blood transfusion or exchange transfusion prior to 48 hours of age are to have a NBS test collected prior to commencement of the transfusion. Babies born extremely premature have this done earliest on reaching full feeds and latest prior to discharge.

The test is a simple blood test where a few drops of blood are taken from the baby and put on a special filter paper. It takes about 7 – 10 days for the report to be available.

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