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The Guthrie Test

The Guthrie Test

The Guthrie Test is also more commonly known as The Heel Prick Test.

When your baby is around a week old your midwife will carry out a few more tests. The one that most people talk about is The Guthrie Test which is carried out to test for rare genetic conditions. The Guthrie/Heel-Prick Test is offered to all babies in the U.K. with the aim of screening for up to 5 disorders. Blood is taken from your baby's heel and the sample is then analysed for the following conditions:

Phenylketonuria (all UK areas)
Congenital Hypothyroidism (all UK areas)
Cystic Fibrosis (most UK areas)
Sickle Cell Disease (fewer UK areas)
MCAD Deficiency (fewer UK areas)

All the midwife needs to do is take a drop of blood from the baby's heel by pricking it. It's just a little scratch and hardly hurts at all.

Phenylketonuria (PKU)is a condition which means that the body can't process a particular substance in food, and as it accumulates it can lead to brain damage. Phenylketonuria can be controlled by a special diet but it is important to pick it up early to prevent any damage occurring.

If your baby is premature or even just small, you may be advised to have his blood sugar level tested in his first couple of days to make sure that he doesn't have low blood sugar (hypoglycaemia). Babies with low blood sugar need additional feeds so it's important to find out if your baby is hypoglycaemic.
Screening test for Cystic fibrosis

Congenital Hypothyriodism is a lack of the growth hormone thyroxine. Without this hormone, a baby can't grow normally. The condition is treated with growth hormone supplements.

Cystic Fibrosis is an inherited condition that affects the lungs and digestive system.

MCAD Deficiency is a condition which impairs fat metabolism. Changing the diet can reduce symptoms.

Sickle Cell Disease affects the shape of red blood cells and reduces their ability to carry oxygen around the body.

Diagnosis of these conditions by screening newborns means that treatment can be started in the first couple of weeks of life.

May 2012

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