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Newborn Screening for Inborn Errors of Metabolism

The purpose of the national expanded newborn screening programme is to offer screening for inborn errors of metabolism (IEM) to all babies born in Singapore. Screening early in life facilitates the early detection and treatment of a number of disorders before the onset of symptoms. Individually these disorders are very rare but as a whole they affect about 1 in 3000 births in Singapore. However, by testing your newborn early such disorders, if identified can be treated early, often before any symptoms occur.

Newborn screening is recognised internationally as an essential preventative health scheme for the early detection of these disorders that can affect the long term health of the baby. Newborns typically appear well at birth, but if left unrecognized these disorders may lead to poor growth, severe illness, brain damage and in some cases death.

A few drops of blood are collected from a heel prick during the first few days after birth, usually before your baby has left the hospital. The ideal collection time is between 24 and 72 hours. This sample is then sent to the NENS lab in KKH where it is analysed to detect a number of IEMs.

More than 99% of all babies will have normal results. This means your baby is at very low risk of having one of these disorders and no further action is required. In less than 1% of cases an abnormal result may be detected. If the screening tests indicates an abnormal result you will be contacted to ask for a repeat sample if borderline or evaluation and further testing if result is clearly positive. Not all positive results will necessarily be due to a metabolic disorder.

Resources

Please click here for a list of Frequently Asked Questions

Our Experts

Name Designation
Assoc Prof Tan Ee Shien Director, National Expanded Newborn Screening Programme & Consultant
Dr James Lim Chief Scientific Officer
Serene Oh Hwei Fern Clinical Nurse Coordinator
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