Newborn Screening

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that are not otherwise apparent at birth.

Metabolic and other inherited disorders can change an infant's normal physical and mental development in a variety of ways. Many of these metabolic disorders (often called "inborn errors of metabolism") interfere with the body's use of food and nutrients to maintain healthy tissues and produce energy. Other disorders that newborn screening can detect include problems with hormones or the blood.

With a simple blood test, doctors often can tell whether newborns have certain conditions that may eventually cause problems. These conditions are rare and most babies are given a clean bill of health. However, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.

Our newborn screening program offers a number of services, including:

  • Short-term follow-up after a baby is found to have a positive screening result
  • Newborn screening DNA testing
  • Follow-up laboratory testing to confirm or rule out a diagnosis
  • Long-term clinical care after the diagnosis of a metabolic disorder

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