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Disparities in Newborn Testing Among States Leaves Many Babies Vulnerable, March of Dimes Says
Foundation Adds New Test to Recommended List During Birth Defects Prevention Month
WHITE PLAINS, N.Y., JANUARY 4, 2002—Disparities among states in health screening tests given at birth mean too many babies with serious birth defects are not being diagnosed and treated in time, the March of Dimes says.
“Parents are often unaware that, while nearly all babies born in the United States undergo newborn screening tests for genetic birth defects, the number and quality of these tests vary from state to state,” says Dr. Jennifer L. Howse, President of the March of Dimes, noting that January is national Birth Defects Prevention Month.
“These tests, done immediately after birth, may mean the difference between a healthy life or a severe disability for a baby,” Dr. Howse says. “Tragedy can sometimes be avoided by quickly identifying a problem and providing the appropriate medical treatment.”
The March of Dimes is the only national non-profit health organization that recommends that every baby born in the U.S. receive, at a minimum, the same core group of screening tests for metabolic disorders plus a newborn hearing test.
José F. Cordero, M.D., M.P.H., Assistant Surgeon General and Director of the National Center on Birth Defects and Developmental Disabilities, notes, “We need to develop a national strategy for ensuring safe and effective newborn screening tests for all infants, regardless of where they are born.”
Approximately four million infants are born annually in the United States, and of these, an estimated 150,000 are born with serious birth defects.
Dr. Howse also says the March of Dimes has increased its core list of recommended newborn screening tests for metabolic disorders to nine, to include the condition known as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The Foundation also recommends screening of newborns for hearing deficits, bringing the total of recommended tests to ten.
MCAD deficiency affects about 1 in every 15,000 infants born in the U.S., the March of Dimes says, and can lead to mental retardation or death if not identified shortly after birth. It is an inherited disorder of fatty-acid metabolism caused by the lack of an enzyme required to convert fat to energy. Seemingly well infants or children can suddenly develop seizures, respiratory failure, cardiac arrest, coma, and death. Identifying affected children before they become ill is vital to preventing a crisis and averting these consequences. Treatment includes steady food or glucose intake and avoidance of fasting.
Accurate testing for MCAD deficiency requires the use of a relatively new scientific instrument called a tandem mass spectrometer. This instrument electronically “weighs” the compounds found in blood samples and can precisely identify unusual levels of certain molecules not detectable by other means.
“The March of Dimes has been reviewing the use of tandem mass spectrometry in laboratories nationwide. We’re now convinced that this technology has reached the point where we can recommend it for MCAD deficiency testing for every baby,” says Nancy Green, M.D., Associate Medical Director of the March of Dimes.
“The consequences of MCAD deficiency, including death or permanent neurological disability, are completely preventable by newborn screening and follow-up to educate the family about how to prevent the fasting that occurs during childhood illnesses. I am extremely pleased that the March of Dimes has included MCAD deficiency among the core group of disorders for which every baby in the United States should be screened,” says Edward R.B. McCabe, M.D., Ph.D., Physician-in-Chief, Mattel Children's Hospital at the University of California at Los Angeles.
The other metabolic disorders on the March of Dimes-recommended list are: phenylketonuria (PKU); congenital hypothyroidism; congenital adrenal hyperplasia (CAH); biotinidase deficiency; maple syrup urine disease; galactosemia; homocystinuria; and sickle cell anemia.
The March of Dimes also advises a hearing test for all newborns. Significant hearing impairment is one of the most common developmental abnormalities present at birth. Undetected, the condition will impede speech, language, and cognitive development.
The March of Dimes is a national voluntary health agency whose mission is to improve the health of babies by preventing birth defects and infant mortality. Founded in 1938, the March of Dimes funds programs of research, community services, education, and advocacy to save babies. For more information, visit the March of Dimes Web site at www.marchofdimes.com, its Spanish Web site at www.nacersano.org, or call 1-888-MODIMES.
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