Newborn screening detects metabolic disorders that can cause developmental issues and lifelong complications such as mental retardation, physical disability and in some instances, death, if it is left untreated.

Scientific literature suggests that approximately 1-2% of newborns are affected by genetic disorders and congenital abnormalities which includes metabolic disorders. Although metabolic disorders are individually rare, but when taken cumulatively, the incidence rate is quite high.

For example, in Hong Kong, about 1 in every 4,000 babies1 is expected to be born with an inherited metabolic disorder. Screening your newborn will facilitate early treatment and prevent long term detrimental effects to your baby’s health.

1 in every 4,000

Affected

is expected to be born with IEM1.

As signs and/or symptoms of a metabolic disorder may not be apparent at birth, newborn screening provides two main advantages:

Early Diagnosis and Intervention

Expanded newborn screening can help identify newborns with potentially life-altering disorders. Although 99% of all babies will have normal results, the greatest benefit is allowing the 1% of babies to receive early diagnosis and treatment so that they do not proceed to developing serious and lifelong complications.

Reduces Financial Burden

Newborns with undetected metabolic disorders can go on to develop serious lifelong complications, such as physical disability or mental retardation, which will create long-term financial burden for the families affected. The initial one-time cost of expanded newborn screening is considered very low when compared to the long-term financial burden of morbidity caused by metabolic disorders.

Reference:
1. Maternal Fetal Medicine Unit, The Chinese University of Hong Kong