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Neonatal Metabolic Disorders


U.S.News & World Report ranks Children's Division of Neonatology among the top ten programs of its kind. The division earned this distinction because of our expertise in the field and because of our family-centered approach to care.

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Getting the news that your newborn 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 frightening 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.

Contact Information
Primary Care Providers, Hospitals and Newborn Screening Laboratories should page Nicole Lavin, CPNP (Program Coordinator) urgent referrals at: 202-259-2601. On weekends and at night please call 202-476-5000, and ask for geneticist on-call.

For non-urgent questions and appointments, call Nicole Lavin at 202-476-4388 or simply e-mail newbornscreening@childrensnational.org

Related Links to Area Newborn Screening Programs:
District of Columbia Newborn Screening Program:
http://genes-r-us.uthscsa.edu/resources/consumer/StatePages/DistColumbia.htm

Virginia State Newborn Screening Program:
http://www.vahealth.org/VNSP/

Maryland State Newborn Screening Program:
http://dhmh.maryland.gov/laboratories/SitePages/Newborn%20Screening.aspx



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