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Newborn screening for DMD shows promise as an international model
Date:3/19/2012

ing in Annals of Neurology documents a nearly-four-year pilot study of a voluntary DMD newborn screening program in Ohio. Over the course of the study, 37,749 newborn boys were screened and six were discovered to have DMD gene mutations. In cases where CK was elevated and DMD mutations were not found, the investigators extended the study to identify limb-girdle muscular dystrophy (LGMD) gene mutations as part of the screening process. The published study results confirmed that this was possible and reported that three of the cases had gene mutations found in LGMD.

"The program we have introduced differs from past programs and the current Antwerp approach to newborn screening for DMD that require a three-step process," said Dr. Mendell. "This new process fits current U.S. obstetrics practices and allows us to readily distinguish false and true positive test results."

Whether DMD treatment has advanced to the point of justifying newborn screening is a judgment yet to be made by state and federal agencies. "If and when an early therapy that improves the health outcome for individuals with DMD becomes available, our study serves as a model for implementation of newborn screening for DMD," said Dr. Mendell.


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Contact: Erin Pope
Erin.Pope@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

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