Most Babies Receive Recommended Newborn Tests, But Half A Million Still Not Screened For Serious Genetic Disorders

The March of Dimes endorsed the 2004 report of the American College of Medical Genetics (ACMG) that calls for every baby born in the U.S. to be screened for 29 genetic or functional disorders. If diagnosed early, all of these devastating conditions can be successfully managed or treated to prevent severe consequences.

Two years ago, only 38 percent of infants were born in states that required screening for at least 21 of these 29 core conditions. As a result of four years of intensive advocacy efforts by March of Dimes chapters and their partners, that percentage has increased to 87.5, or about 3.6 million babies.

"While this important expansion of newborn screening is very good news for families, the lives of 500,000 newborns who still aren't tested hang in the balance," said Dr. Jennifer L. Howse, president of the March of Dimes. "Despite the pleas of parents, clinicians and advocacy groups the United States still lacks consistent federal guidelines for newborn screening. Babies must be screened, to receive immediate treatment necessary to survive and lead healthy lives. The lack of federal guidelines makes it difficult for states to get support for needed legislation."

In states that do not follow the ACMG recommendations, the March of Dimes staff and volunteers continue to work with governors, legislatures, and parent groups to advocate for expanded newborn screening on a state-by-state basis.

In Pennsylvania, newborn screening is offered at most hospitals, but it is not required by law. Therefore it is not a guarantee and, potentially, screening could be eliminated or reduced.

Massachusetts had been a leader in newborn screening when, in the early 1960s, it became the first state to routinely screen all newborns for PKU (phenylketonuria), an inherited metabolic disorder that, if untreated, causes severe mental retardation. But today Massachusetts requires screening for only 12 of the 29 core conditions.

Nationwide, a discouraging 6.1 percent of babies are born in states that required screening for only 10 to 20 of the core conditions and 6.2 percent of newborns will get screening for fewer than 10 conditions. Disparities in state newborn screening programs mean some babies may die or develop brain damage or other severe complications because they are not identified in time for effective treatment, said Dr. Howse.

"All babies across America should receive the benefits of being screened for all of these 29 treatable conditions," said Dr. Howse.

At present, 13 states and the District of Columbia require screening for all 29 core, treatable, conditions. While most states are working to meet that goal, Montana, Kansas and West Virginia, enacted legislation this year requiring all babies be screened for all of the core conditions. Their programs will be implemented next year.

Other states overcame remarkable challenges in order to provide for the health of their smallest citizens. For example, Louisiana, which still is recovering from the devastating hurricanes of 2005, requires screening for 28 of the core conditions.

This is the fifth consecutive year the March of Dimes has analyzed state-by-state newborn screening requirements, creating a snapshot of the nation's progress toward improving the health of newborns. The March of Dimes contracted with the National Newborn Screening and Genetics Resource Center to survey each state's newborn screening requirements.

The snapshot shows that the nation is on target to meet the March of Dimes goal of having all babies screened for 20 or more of the recommended panel of genetic disorders by 2008.

Federal Advocacy Efforts

The March of Dimes supports two pieces of federal legislation, the "Newborn Screening Saves Lives Act," sponsored by Sen. Christopher J. Dodd (D-CT), Sen. Orrin Hatch (R-UT), Rep. Lucille Roybal-Allard (D-CA), and Rep. Mike Simpson (R-ID), and the "Screening For Health of Infants and Newborns (SHINE) Act of 2007," sponsored by Sen. Hillary Rodham Clinton (D-NY) and Rep. Thomas Reynolds (R-NY). These bills would lay the groundwork for national guidelines and authorize funding for several new federal initiatives designed to increase educational resources for parents and health care providers, improve follow-up care for infants, provide assistance to states expanding and improving their newborn screening programs and develop new screening tools for additional life-threatening disorders.

"We call on Health and Human Services Secretary Mike Leavitt to help give all babies a fighting chance for a healthy life through expanded newborn screening," said Dr. Howse.

The ACMG recommendation to screen for 29 conditions has been endorsed by clinicians and researchers alike, including the American Academy of Pediatrics (AAP) and the federal Health and Human Services Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Both the March of Dimes and the AAP have called for a national newborn screening guidelines as well as federal funding to help states improve their screening programs.

Information for Consumers

A list of which screening tests are provided by each state can be found on the "Peristats" section of the March of Dimes Web site at marchofdimes.com/peristats, which is updated regularly, or at the National Newborn Screening and Genetics Resource Center Web site at http://genes-r-us.uthscsa.edu.

Regardless of how many screening tests are mandated by individual states, parents and health professionals should be fully informed of the benefits and availability of comprehensive newborn screening, Dr. Howse said. It is also advisable for parents to receive information on screening tests for those conditions for which treatment is not yes available.

Newborn screening is done by testing a few drops of blood, usually from a newborn's heel, before hospital discharge. A positive result does not always mean the infant has the disorder. If a screening result is positive, the infant is re-tested and then given treatment as soon as possible, before becoming seriously ill from the condition.

Parents can find a brochure about the recommended newborn screening tests online at the March of Dimes Web site at http://marchofdimes.com/nbs.

Those who live in states where newborn screening is limited can arrange privately for additional tests, often at additional expense to the family or health plan. Parents should check with their doctor or their state health department for a list of providers of these screening tests.