Screening for Genetic Disorders in Newborns Now Routine


Screening for rare genetic disorders is now routine procedure in newborns, according to a new report from the March of Dimes:

“All 50 states and the District of Columbia now require that every baby be screened for 21 or more of the 29 serious genetic or functional disorders on the uniform panel recommended by the American College of Medical Genetics (ACMG) and endorsed by the March of Dimes. If diagnosed early, these disorders can be successfully managed or treated to prevent death, disability, or other severe consequences such as mental retardation.”

The March of Dimes, which has long advocated for increased screening of newborns, is hailing this as a major victory.

“Today we announce that expanded screening is required by the states for nearly 100 percent of the more than 4 million babies born each year in the U.S.  The clear beneficiaries are babies and their families,” said March of Dimes President Jennifer L. Howse, PhD, in a public statement. “With the help of volunteers, parents and our partners, we have nearly erased the cruel injustice that sentenced babies to an undetected but treatable metabolic or functional condition based on their birth state.  This is a success story.”

In addition, R. Rodney Howell, MD, chairman of the federal Health & Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, has referred to these findings as “a sweeping advance for public health,” adding that “whether babies are screened and can get the immediate treatment they need to lead a healthy life no longer depends on the state in which they are born.”

The March of Dimes began measuring state-by-state requirements on expanded newborn screening in 2005, and at that time only 38 percent of infants were born in states that required screening for 21 or more of 29 core conditions. Additionally, the New York Times reports that in 2000, “most states screened for only four conditions and testing practices varied widely from state to state.” Now nearly all babies are born in states that require screenings for at least 21 core conditions. 

A list of which screening tests are provided by each state can be viewed at the Newborn Screening and Genetics Resource Center website.



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