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FAST TRACKING DIAGNOSIS


Issue:
Newborn screening tests are performed when a baby is between 24 hours and 7 days old, typically before the baby goes home from the hospital.  A few drops of blood are obtained by a nurse from a heel prick on specially-designed filter paper, to be tested for a panel of developmental, genetic, and metabolic disorders. The blood is typically sent to a lab for analysis. Screening tests do not diagnose illnesses, but rather they identify which babies need additional testing to confirm or rule out illnesses.

The tests identify whether important action should be taken during the critical time before symptoms develop. In the United States, individual states regulate newborn screening, so the diseases screened for vary considerably from state to state.

On May 21, 2010, Kathleen Sebelius, Secretary of Health and Human Services (HHS) announced the addition of Severe Combined Immune Deficiency (SCID) to the core panel of 29 genetic disorders as part of her recommendation to states to adopt the national Recommended Uniform Screening Panel.  In 2011, Maryland, Virginia and the District of Columbia recommended the addition of SCID to their respective newborn screen panel.

Through the  expanded newborn screening program happening in many US states,  parents may be told their baby has an abnormal result for the  SCID condition. Pediatricians need to understand the steps to take, referrals to offer and information to share with parents as the journey to diagnosis begins.

Why it is important:
The survival of SCID patients is greatly enhanced if children are diagnosed and treated before severe infections take hold.  Babies with SCID appear healthy at birth, but without early treatment, such as a bone marrow transplant, these infants cannot survive.    In addition to SCID, the screening program is able to identify other severe immune deficiencies in newborns, enabling early diagnosis.

The implementation of these screening programs requires the establishment of a basis of knowledge  for pediatricians to get newborns babies  connected with specialists for rapid screening, diagnosis  and identifying a care plan for the child.

What BE GREAT is doing about it
BE GREAT is building programs  to work with mid-Atlantic pediatricians in broadening their knowledge and understanding  of the steps  necessary when a newborn screening result is abnormal for SCID.  It is critical that all of these babies get on the fast track to diagnosis.

Through your support, this program will continue to  develop as Maryland, Virginia, and the District of Columbia adopt the Newborn SCID Screening test.

How you can help:
If you are interested in finding out more  information about this program or becoming involved, contact us

Your donation will help this program reach the many pediatricians able to help start the diagnosis process.

 

 

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