FDA Authorizes First Newborn Screening Test for Duchenne Muscular Dystrophy
FDA has authorized the marketing of the first newborn screening (NBS) test for Duchenne Muscular Dystrophy (DMD). DMD is the most common type of muscular dystrophy, caused by the absence or abnormal function of the dystrophin protein and has an X-linked inheritance pattern. While a family history of DMD may be present, new mutations may arise resulting in affected males. Symptoms of progressive muscle weakness are not typically present at birth but rather begin to manifest between 3 and 5 years of age. DMD occurs in about 1 in 3,600 male live-born infants worldwide (females are rarely affected).
Because DMD will not be diagnosed at birth and CDC has advised that earlier diagnosis could lead to more personalized care, DMD is a candidate for NBS. The screening test measures the levels of Creatine Kinase-MM (CK-MM) isoenzyme from the dried blood heal stick, performed 24 to 48 hours after birth. Elevated levels of CK-MM may reflect DMD and other laboratory tests (e.g., genetic testing) are used for confirmation.
The FDA does point out that the new DMD NBS authorization means that laboratories can add this test to their current panels but does not mean such screening is now a requirement. The FDA further states that
there has been a national effort to harmonize screening practices across state newborn screening programs in the U.S. As a result of the collaboration between the federal Advisory Committee on Heritable Disorders in Newborns and Children and the American College of Medical Genetics, as well as governmental, non-governmental, advocacy and private partners, the Recommended Uniform Screening Panel (RUSP) was developed and adopted. The RUSP is a list of core and secondary conditions for screening newborns that the U.S. Department of Health and Human Services recommends for states to screen as part of their state universal newborn screening programs
Want to be notified when new guidelines are released? Get ObGFirst!
Please log in to access ObGFirst and the 2T US Atlas
Media - Internet
Computer System Requirements
OBG Project CME requires a modern web browser (Internet Explorer 10+, Mozilla Firefox, Apple Safari, Google Chrome, Microsoft Edge). Certain educational activities may require additional software to view multimedia, presentation, or printable versions of their content. These activities will be marked as such and will provide links to the required software. That software may be: Adobe Flash, Apple QuickTime, Adobe Acrobat, Microsoft PowerPoint, Windows Media Player, or Real Networks Real One Player.
Disclosure of Unlabeled Use
This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.
The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.
Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information
presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.
Jointly provided by
NOT ENOUGH CME HOURS
It appears you don't have enough CME Hours to take this Post-Test. Feel free to buy additional CME hours or upgrade your current CME subscription plan