The heel prick test screens babies for rare but serious conditions so that they can be diagnosed and treated as soon as possible.

 

It involves taking a drop of blood from the baby’s heel and putting it onto a screening card for testing. It is usually done when the baby is between three and five-days-old.

 

The heel prick test screens for the following conditions:

 

1. Phenylketonuria

When the body is unable to break down a chemical called phenylketonuria it can build up in the brain and blood system. Early treatment is vital to ensure your baby can go on to live a normal life; without treatment early on children can suffer from learning difficulties.

 

2. Homocystinuria

This is caused when the body is unable to process amino acids properly and can result in myopia, abnormal blood clotting, brittle bones or dislocation of the lens at the front of the eye.

 

3. Maple syrup urine disease

So called because the urine of people who have this condition smells like maple syrup, it occurs when the body cannot break down certain parts of proteins. It can be mild or severe and symptoms include seizures, vomiting, lethargy and feeding difficulties.

 

4. Classical galactosaemia

This is caused by a deficiency of an enzyme needed for the breakdown of galactose. Without proper treatment the condition can cause damage to the liver, cause the child to develop cataracts or develop a bleeding disorder which can cause them to bleed spontaneously.

 

5. Cystic fibrosis

Cystic fibrosis causes the lungs and digestive system to become clogged with a thick, sticky mucus and occurs when a gene that controls movement of salt and water in the body is faulty.

 

6. Congenital hypothyroidism

Congenital hypothyroidism is a condition caused by a deficiency in the thyroid gland and requires life-time medication.

 

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