It is a screening for every newborn for many harmful or potentially fatal metabolic disorders (also known as inborn errors of metabolism, or IEMs for short) that are not apparent at birth.

What is an Inborn Error of Metabolism

An inborn error of metabolism is a rare genetic disorder where the affected baby lacks certain enzymes that maintain normal bodily metabolic functions, causing the build-up of toxic substances or deficiency of critical substances required for development.

Affected baby appears normal

Affected baby appears normal

Affected lacks enzymes

Affected baby lacks enzyme to breakdown milk properly

Affected baby  becomes sick

Affected baby becomes sick, with symptoms like vomiting, seizures, poor feeding, lethargy or developmental delays.

Expanded Newborn Screening Test

Expanded newborn screening involves the screening the newborns for many harmful or potentially fatal metabolic disorders that are not apparent at birth in a single test. Early detection of a metabolic disorder helps facilitate early intervention. This would prevent long-term detrimental effects to the affected baby’s health.

The screening can either be done with the newborns’ urine or blood specimens. The difference between using urine and blood for newborn screening is the number of metabolic disorders detectable and the invasiveness of the collection. Due to the nature of these specimens as well as the technology available currently, about 50 conditions can be detected from blood, and whereas more than 100 metabolic conditions can be detected from urine.