Desert Storks

New Born Screening Test

The Newborn Screening Test, sometimes called a ‘Guthrie test’ or ‘heel prick’ test, is part of the normal care for newborn babies in Australia. This blood test is used to screen all newborn babies for some rare metabolic and congenital disorders. In Australia, advanced technology allows the testing from a single blood sample for over 30 different health problems.

These include congenital hypothyroidism, phenylketonuria (PKU), cystic fibrosis (CF), galactosaemia, and several conditions affecting the breakdown of fats (fatty acid oxidation defects) and proteins (amino acid metabolism disorders). Many of these conditions are genetic, and inherited from two healthy parents each carrying the abnormal gene. Read more »