Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. Each year, millions of babies worldwide are routinely screened, using a few drops of blood from the newborn’s heel, for certain genetic, endocrine, and metabolic disorders.

The disorders included in the newborn screening belong to different categories but majority of them are inborn errors of metabolism (IEM), which refer to a group of genetic diseases where body lacks the ability to correctly process certain compounds. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Most newborns with these disorders look healthy at birth.

Early Detection allows Early Treatment

Individually, these disorders are very rare. As a whole, they affect about 1 in 1000-1500 births. By testing newborns during their first days of life, such disorders can be treated early, often before any sign or symptom surfaces.

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