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Newborn screening tests

A newborn screening test will be carried out in the first week of your baby’s life to check for four metabolic disorders, and one disorder that affects the thyroid gland.

What are metabolic disorders?

Metabolic disorders are inherited by a child from the father’s or mother’s genes and they affect the way the body converts food and nutrients. Without early screening and diagnosis, these disorders can cause serious illness and even death.

What does screening involve?

Your baby’s blood will be taken for a Newborn Screening Test for Inherited Metabolic Disorders. This test is sometimes also referred to as the Guthrie Test or the heel prick test. The midwife, doctor or Public Health Nurse will prick your baby’s heel with a small needle. The blood will be collected onto a special card which is then sent to the lab for testing.

When is the test carried out?

The Guthrie test must be done within 72 to120 hours after birth.

How do I prepare my baby for the test?

If your baby is being breastfed, make sure he’s taken sufficient milk before the test starts.

Who will carry out the test?

Depending on whether you’re at home or in hospital, the test may be carried out in the hospital where your baby was born, by your midwife or Public Health Nurse at home or by your GP.

When will the results be available?

The results of your baby’s test will be made available within two weeks.

What problems can these disorders cause?

Phenylketonuria (PKU)

• What is it? PKU affects the way your body processes an amino acid called phenylalanine. Phenylalanine is a building block in milk proteins which cannot be digested by the baby with PKU.
• What can it cause? Severe mental retardation.
• How is it treated? With a PKU free special diet that needs to be introduced by the time your baby is three weeks old.

Galactosaemia

• What is it? In the body, a sugar found in milk called lactose is changed into galactose and glucose. In galctosaemia, galactose cannot be broken down.
• What can it cause? The high levels can cause brain and liver damage and other health problems.
• How is it treated? If detected early the condition can be prevented using soya milk formula and following a special diet.

Maple Syrup Urine Disease (MSUD)

• What is it? Babies with MSUD cannot break down, or metabolise the amino acids leucine, isoleucine and valine. The disease is called Maple Syrup Urine Disease because urine from affected babies smells like maple syrup.
• What can it cause? If left untreated, severe neurological damage will result and in some cases babies may die in the first few weeks of life.
• How is it treated? A special diet is required for life.

Homocystinuria

• What is it? This condition is usually caused by a defective enzyme called cystathionine synthetase, which is needed to properly digest the amino acid methionine.
• What can it cause? Left untreated, homocystinuria causes mental retardation and a range of other serious health problems.
• How is it treated? It can be treated successfully by changing the baby to a milk formula that does not contain methionine. Treatment may also include large doses of Vitamin B6.

Hypothyroidism

• What is it? Babies who have congenital hypothyroidism are born with low levels of the thyroid hormone. This is due to the baby’s thyroid gland making very little of the hormone or even none at all.
• What can it cause? If the problem is not treated, mental retardation will result.
• How is it treated? If treatment with extra thyroid hormone is started early, children with congenital hypothyroidism grow and develop normally.