Newborn Screening - Frequently Asked Questions

Q: What is metabolism?

Answer: Metabolism is the process our body uses to make energy from the food we eat.  Natural chemicals in our digestive system break the food parts (proteins, carbohydrates and fats) down into sugars and acids, our body's fuel.

 

Q: What do you mean by “metabolic problem / disorder”?

Answer: A metabolic disorder occurs when this process is disrupted. When this occurs, the body may not produce enough energy to keep healthy. In some cases the disruption to the metabolism means that there is a build-up of unwanted substances which are toxic to the body.

 

Q: What will this mean for my child?

Answer: There are many different metabolic disorders and they can affect a child in many different ways. Sometimes the disorders are quite mild and do not need specific treatment; others are more serious and need prompt assessment and treatment.

 

Q: Will it go away?

Answer: In some cases the newborn screening test detects a mild abnormality which is simply due to the immaturity of the baby’s metabolic processes. In such cases the disorder will go away within the first few weeks of life. These are called transient disorders. If there is an underlying metabolic disorder then the abnormalities will persist and treatment will be required.

 

Q: If it’s gone, will it come back again?

Answer: No. If the follow up samples show a transient condition then it will not come back.

 

Q: How did it happen?

Answer: Metabolic disorders arise due to a fault in one of the genes. The child has been born with the condition and if not investigated further may become unwell.

 

Q: Can it be cured?

Answer: The basic fault in the gene cannot be fixed. However the conditions can be treated usually by changing the baby’s diet.

 

Q: Is it due to what I eat?

Answer: No it is not due to anything that mum has eaten.

 

Q: Can I continue to breastfeed my baby?

Answer: In many metabolic disorders it is possible to continue breast feeding. In a few disorders breast feeding has to be replaced with another infant formula.

 

Q: During my pregnancy, a thorough check was done. Doctor has said the baby is fine. How could this have been missed?

Answer: The routine tests performed in pregnancy would not pick up these metabolic disorders.

 

Q: My child looks normal. Is he/she abnormal?

Answer: Children with metabolic disorders look normal. However they may become unwell if the condition is not diagnosed and treated.