Your newborn can be screened for at least 25 rare metabolic disorders, to ensure that he or she gets the best start in life.
Although most newborns with these metabolic disorders look healthy at birth, they may be at risk of 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 metabolic disorders are very rare. As a whole, they affect about 1 in 2500-3500 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.
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.
A screening test shows whether your baby is at high or low risk of having such a disorder. The metabolic screen looks for more than 25 metabolic disorders in the following categories:
• Organic acid disorders
• Fatty acid oxidation disorders
• Amino acid disorders
A small test with big benefits
In order to perform the screening test, a small blood sample is needed from your baby. A few drops of blood are collected on a special filter paper by gently pricking the heel. The sample is sent to the National Expanded Newborn Screening Laboratory for analysis.
A blood sample can be taken from your baby any time between 1 day (24 hours) and 7 days old. The best time for collection is between 1 to 3 days old (24 to 72 hours).
The test 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 1 in 100 babies. This is usually because the first sample showed
borderline results, making it impossible 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 the result. If a diagnosis is made, your baby will be given appropriate treatment right away.
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.
If you are delivering your baby at a restructured hospital (KKH, NUH and SGH) in Singapore, 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, NUH and SGH, please ask your healthcare provider for the test.