Metabolic Screening Test For Your Newborn Baby

Symptoms | Treatments

What is

Symptoms

Treatment

What is - Metabolic Screening Test For Your Newborn Baby

As a parent, your baby’s health is your first priority. To ensure that your baby gets the best start in life and stays healthy, your newborn can be screened for at least 25 rare metabolic disorders.

Although most newborns with these disorders look healthy at birth, they may be at risk of having serious health problems later in life. These could include learning difficulties, recurrent sickness and even death if their disorder is not detected and treated early.

Early Detection allows Early Treatment
Individually, these disorders are very rare. As a whole, they affect about one in 2500 to 3500 births in Singapore. By testing newborns during their first days of life, such disorders can be treated early, often before any sign or symptom surfaces.

Symptoms of Metabolic Screening Test For Your Newborn Baby

The Metabolic Screen
When the body cannot successfully breakdown (metabolise) some substances in food/milk such as fats, protein or sugar, they can accumulate and become toxic to the body. This can cause serious health problems.

This screening test shows whether your baby is at high risk or low risk of having such a disorder. The Metabolic Screen looks for more than 25 metabolic related disorders in the following categories:

Organic Acid Disorders
Fatty Acid Oxidation Disorders
Amino Acid Disorders

Treatment for Metabolic Screening Test For Your Newborn Baby

A Small Test with Big Benefits
In order to perform the screening tests, a small blood sample will be taken from your baby. A few drops of blood are collected on special filter paper by gently pricking the heel. The blood sample is sent to the National Expanded Newborn Screening Laboratory for analysis.

Blood samples can be taken from your baby any time between one day (24 hours) and seven days old.

The best time for collection is between one to three days old (24 to 72 hours).

High Risk or Low Risk Results
When the sample has been analysed and results are available, one of the following will occur: Your baby’s result is negative for all the disorders. More than 99 per cent of the babies fall into this category. It means that your baby is at very low risk of having these disorders. The result will be filed into your baby’s medical record. On very rare occasions, a disorder may not be picked up on the metabolic screen.

A repeat sample is required.
A second sample is needed for about one in 100 babies. It is usually needed because the first sample showed borderline results, which means it was not possible to tell whether or not a problem exists.

You will be contacted to arrange for another sample to be taken.
Your baby’s result is positive for one of the conditions. Having a positive result does not necessarily mean that your baby has a disorder. It only means that further testing is needed. You will be contacted to make arrangements for a metabolic physician to review and investigate. If a diagnosis is made, your baby will be given appropriate treatment right away.

It is important to know that most babies in Singapore are screened negative. These rare but life threatening disorders can usually be prevented with early diagnosis and treatment.

Would you like to know more?
For more information about the metabolic screen in Singapore, speak to your healthcare provider, or call the National Expanded Newborn Screening Laboratory at 6394 5049.

You can also write to us at Metabolic.Screening.Laboratory@kkh.com.sg.

If you are delivering your baby at KKH or SGH, your baby will be screened. Please note that you have the right to refuse the metabolic screen. If this is your wish, please speak to your healthcare provider.

If you are delivering in a hospital other than KKH or SGH, please ask your healthcare provider for the test.