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Neonatal Metabolic Disorders

Contact number | 202-476-2090

Getting the news that your baby’s newborn screen is abnormal can be scary. The Newborn Screening Follow-up Program at Children’s National guides newborns, their families, and their primary care physicians through the process following an abnormal newborn screen-- from the first phone call until a diagnosis is confirmed or disproved.

After birth when they are still in the hospital, all babies who are born in the United States, are screened for diseases that can be harmful or life-threatening if they are not identified and treated early.

This screening test (which some still call the “PKU test”) is done when your baby is a day or two old and is done from a few drops of blood from his or her heel that is then sent to the state newborn screening lab (either Washington, DC, Maryland, or Virginia, depending on where your baby was born). Every baby is tested for over 30 diseases that can affect his or her metabolism (the production of energy from protein, fat and sugar). If the newborn screen is abnormal (“positive”), then the state will contact your pediatrician who then may, in turn, contact Children’s National Newborn Screening Follow-up Program for guidance and expertise.

Our Team

Our program has 10 board-certified medical geneticists who are specially trained and experienced in the confirmation of positive newborn screens and the treatment of metabolic diseases. In addition, the program has a dedicated pediatric nurse practitioner to coordinate the program including office visits and definitive biochemical/genetic testing, two metabolic nutritionists, nine genetic counselors as well as social workers, child-life specialists, insurance specialists and medical interpretation services.

Working within the Division of Genetics and Metabolism allows for seamless transfer of care between the Newborn Screening Follow-up Program and the Inherited Metabolic Disorders Program when a newborn is confirmed to truly have a metabolic disease. The two programs share the same clinical space and utilize many of the same clinical staff and hospital resources.

Neonatal Metabolic Disorders Team