Newborn Screening and Pompe Disease Update

Newborn Screening and Pompe Disease Update
In the U.S. and many other countries, newborn babies are screened for a number of conditions before leaving the hospital. The U.S. Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) makes recommendations regarding which diseases are routinely screed for, but which diseases are actually screened for is determined at the state level. The DACHDNC currently recommends that newborns uniformly be tested for 31 core and 26 secondary disorders.

During 2013, the neuromuscular disease Pompe Disease, also known as acid maltase deficiency) has been under consideration for inclusion in the recommended screening panel. During the January and February, 2013 meetings, the committee decided not to recommend that Pompe Disease be added to the recommended screening panel. Reasons cited pointed to the need for better screening tests and methods for standardizing diagnosis. Othe reasons given included the need for increased research into cost effectiveness and the costs and benefits of diagnosing late-onset Pompe Disease at infancy. The letter did note the importance of considering this disease and the possibility of adding the disease to the panel in the future.

During the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children�s May 2013 meeting, however, the committee recommended that Pompe disease be added to the Recommended Uniform Screening Panel. Reasons cited included significant benefit for early identification of Pompe disease, including earlier diagnosis and treatment and enabling further research on the disease. Pompe disease is now listed under �Conditions in progress� on the DACHDNC website.


DACHDNC website, (2013). Retrieved from on 9/27/13.

MDA website, ( n.d.). Newborn Screening Recommended for Pompe Disease. Retrieved on 9/27/13.

MDA website, ( n.d.). Pompe Dises, DMD: Newborn Screening Proposed. Retrieved from on 9/27/13.

Pompe Disease Letter from Committee, (n.d.) and Pompe Disease Letter from Committee, (2013). Available on the DACHDNC website at as a downloadable pdf file. Downloaded on 9/27/13.

You Should Also Read:
Read about Pompe disease.
Learn more about Newborn Screening and Neuromuscular Disease.
Find out about the flu and neuromuscular disease.

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