Report Highlights Increased Newborn Screening Rates

In 2000, most states screened for only four conditions. The March of Dimes has since recommended criteria to screen for the presence of other life-threatening conditions as published in an editorial in the journal of Pediatrics, thus launching advocacy efforts to require greater comprehensive newborn screening in every state. In 2005, the American College of Medical Genetics recommended that screening for twenty-nine disorders be mandated for every newborn in the United States. The importance of screening for these twenty-nine disorders is reflected in the incidence rates, ranging from 1 in 5,000 births to 1 in 100,000 births.

Newborn screening is typically done by testing a few drops of blood from a newborn’s heel collected on a filter paper card before or soon after hospital discharge. A positive result may not mean the infant has a disorder but would require further follow-up testing. And if the diagnosis is confirmed, the newborn is given treatment as soon as possible. Early detection can prevent death, a life-long disability, or any other life-altering severe consequences. Recent advances in technology—specifically use of a specialized method called tandem mass spectrometry—has provided the means to identify many of these serious conditions from a single drop of blood.

According to the most recent March of Dimes report card, all 50 states and the District of Columbia will now require that every newborn baby be screened for at least 21 of the 29 serious disorders. Forty-six states and the District of Columbia screen for 26 or more, and 24 states and the District of Columbia require screening for all 29 disorders, with more states expected to join them this year. Although all states now have required screening, only two states—Pennsylvania and West Virginia—have yet to implement expanded programs as of December 31, 2008, according to the report card.

These figures represent a marked improvement from 2005, the first year that the March of Dimes report card measured state-by-state requirements on expanded newborn screening. In 2005, only 38 percent of infants were screened in those states that required screening for 21 or more of 29 core conditions.

“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,” said Jennifer L. Howse, PhD, president of the March of Dimes.

R. Rodney Howell, MD, chairman of the federal Health & Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) said the figures in the report are evidence of a “sweeping success story,” explaining, “Now, 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.”

As states have stepped up screening, the federal government has increased its support for services related to testing. A federal law passed in April 2008 aims to help improve state newborn screening programs by providing education for families and providing additional funding for follow-up and treatment of infants who test positive for disorders identified through screening. The law also directs funds toward education of health professionals regarding newborn screening and requires the National Institutes of Health to coordinate and expand research on technologies that might improve existing screening tests or identify additional disorders.

Sources

March of Dimes press release. States Expand Newborn Screening for Life-Threatening Disorders. Available online at http://www.marchofdimes.com/aboutus/22684_51920.asp through http://www.marchofdimes.com. Issued March 18, 2009. Accessed April 10, 2009.

Newborn Screening Law. Families of Spinal Muscle Atrophy. Available online at http://www.fsma.org/FSMACommunity/Legislative/FSMALegislativeAgenda/NewbornScreening/NewbornScreeningLaw/ through http://www.fsma.org. Accessed January 2, 2009.

S. 1858 summary. Library of Congress. Available online at http://www.thomas.gov/cgi-bin/bdquery/z?d110:SN01858:@@@D&summ2=m& through http://www.thomas.gov.