Call for Expansion of Congenital Disorders Screening

September 19, 2008

Screening all newborns for a panel of 29 disorders recommended by the American College of Medical Genetics would help detect significantly more children with rare disorders, according to a report published in the Sept. 19 issue of the U.S. Centers for Disease Control and Prevention's Morbidity and Mortality Weekly Report.

FRIDAY, Sept. 19 (HealthDay News) -- Screening all newborns for a panel of 29 disorders recommended by the American College of Medical Genetics would help detect significantly more children with rare disorders, according to a report published in the Sept. 19 issue of the U.S. Centers for Disease Control and Prevention's Morbidity and Mortality Weekly Report.

Bradford L. Therrell, Ph.D., of the National Newborn Screening and Genetics Resource Center in Austin, Texas, and colleagues analyzed data collected between 2001 and 2006 from Massachusetts, North Carolina and Wisconsin, chosen because they were the only states that had had well-established tandem mass spectrometry screening programs for most of the disorders in place for at least six years, as well as California, included because the state expanded implementation in 2005 and had a large number of births per year.

When the data was extrapolated nationwide, the authors estimated that screening newborns using the recommended panel of 29 disorders would have identified 6,439 children, 32 percent more than the 4,370 who would otherwise have been identified.

"The findings underscore the need for public health and health care delivery systems to build or expand the programs required to manage the rare disorders detected through expanded newborn screening, while also continuing programs to address more common disorders," the authors write.

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