Information for Health Care Providers
What is Newborn Screening?
- Newborns are screened for several metabolic and genetic disorders using a few drops of blood collected via a heelstick. If diagnosed early, these disorders can often be treated to prevent mental retardation, physical disabilities, and death.
- Although each state performs newborn screening, the disorders included in a state's screening panel vary according to its specific laws.
- Most newborn screening is conducted through state programs. The program makes sure that a baby with an abnormal screening result receives diagnostic testing and follow-up care. Finally, the program educates parents and health care providers about newborn screening.
What is the Expanded Newborn Screening Blood Test?
- The expanded newborn screening blood test uses technology such as Tandem Mass Spectrometry to screen babies for over 24 rare metabolic and genetic disorders. Like standard newborn screening, the expanded newborn screening blood test uses drops of blood from a single heelstick.
- In 2006, the Maternal Child Health Bureau commissioned the American College of Medical Genetics (ACMG) to standardize outcomes and guidelines for state newborn screening programs. ACMG convened an expert panel which identified 29 core conditions which should be screened for in all states. Many of these conditions are detected via tandem mass spectrometry.
- Most states screen for the 29 core conditions.
How Can My Baby Get the Expanded Newborn Screening Blood Test?
- First, check with your state newborn screening program to make sure that they are not already doing the expanded screening. The link http://genes-r-us.uthscsa.edu/state_contacts.pdf will give you state program contact information.
Disclaimer: The information provided is not an endorsement of the laboratories listed above. The information is provided purely as a service for health care providers.