Newborn screening tests are free. The tests are not compulsory and a verbal or written agreement (dependent on the state/territory) is required from the parents of the child before the heel prick test is performed. An information pamphlet should be provided to you prior to collection of the sample, to allow discussion and to obtain your consent for collection and testing. Parents may refuse the test on behalf of their baby, but this could unnecessarily risk the baby’s health. Most babies screened will not have any of the conditions but for the small number that do, the benefits of screening are enormous. Early treatment can improve their health and prevent severe disability or even death. Newborn screening helps to identify babies thought to be affected by one of the following conditions:

Phenylketonuria (PKU) — PKU is a rare condition which affects about 1 in 10,000 babies. A baby with this problem cannot properly use one of the building blocks of protein called phenylalanine, which accumulates in the blood and causes brain damage. This is a rare inherited condition that can cause severe learning difficulties. Early treatment with a special diet can prevent disability and allow babies to lead a normal life. Congenital hypothyroidism (CHT) — Hypothyroidism affects about 1 in 3,500 babies. It is caused by the thyroid gland not developing properly. Early treatment with daily thyroid hormone leads to normal mental and physical development. Cystic fibrosis (CF) — 1 in every 2,500 babies has cystic fibrosis. In cystic fibrosis, the mucus produced in the intestines and lungs is thicker than normal. This results in infections in the lungs