Single Gene Disorders Home > Duchenne/Becker Muscular Dystrophy (DBMD) > Screening and Diagnosis

Screening and Diagnosis

CDC is working with several partners to gather information on ways to improve screening and diagnosis for DBMD.

• Early screening and diagnosis of Duchenne muscular dystrophy (DMD)
  CDC has funded two research projects to gather more information about issues related to screening boys for DMD:

  The newborn screening project offers the DMD screening test to parents shortly after the baby is born, before he leaves the hospital. This screening program is being done by researchers at Columbus Children’s Research Institute in Ohio. Two birthing hospitals in Columbus and two in Cincinnati will serve as study sites. Principal investigator for the newborn screening program: Jerry R. Mendell, MD Columbus Children’s Hospital Rm WA3024 700 Children’s Drive Columbus, OH 43205

  The infant screening project offers the DMD screening test to parents of boys ages 6 through 15 months during a routine check-up at their son’s doctor’s office. This screening program is being run by researchers at Emory University in Atlanta, Georgia. Seven large pediatric clinics in the metro Atlanta area will serve as study sites. Principal investigator for the infant screening program: Paul M. Fernhoff, MD, FAAP, FACMG Department of Human Genetics Emory University School of Medicine 2165 N. Decatur Road, N.E. Decatur, GA 30033

Information gathered through both of these programs will help us understand:

	The number of parents who want the screening test for their sons
	Reasons why parents do or do not want screening
	Parents’ understanding of the screening test
	Problems that occur when parents get a false-positive result
	Families’ experiences with the screening programs
	Health care providers’ opinions about the screening programs

As part of these projects, the CDC Newborn Screening Quality Assurance Program is developing a program to monitor the quality of the testing in labs around the world that are involved in newborn or infant screening for DMD. Quality control testing materials are sent to the laboratories to ensure that their screening tests are accurate.

• Decision analysis of parents facing voluntary newborn screening programs
  CDC is working with Research Triangle Institute (RTI) International to develop a survey to assess the factors that parents consider when deciding whether to take part in newborn screening for single gene disorders like DBMD. Information gathered from this tool will be used to develop future newborn screening programs directed at single gene disorders.

Principal investigator for this study:
Derek S. Brown, PhD
Research Economist
Public Health Economics Program
RTI International
3040 Cornwallis Road, Hobbs 112
P.O. Box 12194
Research Triangle Park, NC 27709-2194

Presentations The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the Centers for Disease Control and Prevention.

 

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Date: September 1, 2006
Content source: National Center on Birth Defects and Developmental Disabilities