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Some Screening Programs Sit Idle for Lack of Funding,
Threatening the Health of Babies
Kansas City, MO – Seventy percent of babies in the U.S. are born in states that still fail to carry out the nine core newborn screening tests recommended by the March of Dimes, according to the non-profit's 2004 state-by-state report card on newborn screening. In Missouri five screening tests are conducted plus hearing deficiency.
The March of Dimes is the first national health organization to recommend that every baby born in the U.S. receive, at a minimum, screening for the same core group of nine metabolic disorders as well as hearing deficiency. All of these metabolic disorders can be successfully managed or treated to prevent severe consequences, if diagnosed early.
Few parents realize that the extent of newborn testing depends entirely on the state in which their baby is born. For infants affected with these nine metabolic disorders, the tests can mean the difference between life and death, the March of Dimes says. The March of Dimes encourages states to add more screening tests as resources and capabilities allow.
“The number of screened disorders continues to vary greatly by state. Here we have a simple and inexpensive solution to a potentially devastating problem, and it's time for all states to make newborn screening a top priority,” says Dr. Jennifer L. Howse, president of the March of Dimes and a member of the U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.
“Our state chapters and their partners have been working closely with governors, state legislators, and health departments to increase access to these important tests,” Dr. Howse says. “I’m encouraged to report today that since this time last year, the number of states that test for the nine core metabolic disorders has risen from nine to 21.”
Currently, the following 21 states screen for the March of Dimes-recommended list of metabolic disorders: Alaska, Connecticut, Hawaii, Idaho, Illinois, Indiana, Iowa, Maine, Maryland, Massachusetts, Mississippi, Nevada, New York, North Dakota, Oregon, Rhode Island, Tennessee, Vermont, Virginia, Washington, and Wisconsin. These states account for about 1.3 million of the approximately 4 million live births each year in the U.S. “This means that only about 32 percent of babies are born in states that carry out the recommended screening,” Dr. Howse says.
Fourteen states, plus the District of Columbia, currently offer tests for six to eight of the conditions on the March of Dimes list. Another fifteen states, plus Puerto Rico, currently offer tests for only five or fewer conditions.
Nine states (Delaware, Florida, Georgia, Kentucky, Michigan, Minnesota, Oklahoma, South Carolina, and Wyoming) have authorized expanded newborn screening, but testing currently is not being implemented.
Another seven -- Louisiana, Missouri, Montana, Nebraska, New Hampshire, Pennsylvania, South Dakota -- are testing only selected populations within the state or are running pilot programs that do not include all babies.
Although most states have approved screening for hearing deficiency, seven states currently do not ensure that at least 90 percent of babies actually get tested, the March of Dimes says.
Dr. Howse says the March of Dimes urges Congress to act and to appropriate $25 million to fund Title 26 of the Children’s Health Act of 2000, to help improve and strengthen state newborn screening programs.
The metabolic disorders on the March of Dimes-recommended list for screening are: phenylketonuria (PKU); congenital hypothyroidism; congenital adrenal hyperplasia (CAH); biotinidase deficiency; maple syrup urine disease; galactosemia; homocystinuria; sickle cell anemia; and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The March of Dimes and the American Academy of Pediatrics also advise a test for hearing deficiency for all newborns.
Newborn screening is done by testing a few drops of blood, usually from a newborn’s heel, before hospital discharge. If a result is positive, the infant will usually be re-tested and given treatment as soon as possible, before becoming seriously ill from the disease.
Currently, parents seeking screening for disorders not currently done by their state must arrange privately for their newborn to be screened, often with additional out-of-pocket expense. Parents are encouraged to check with their state’s Department of Health to determine what newborn screening tests are offered. In some states, approval and funding of expanded screening may be in development. In other states, governors or legislators may need encouragement to give attention and resources to these programs.
To learn about the tests offered by your state, see the list at www.marchofdimes.com/nbs.
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 and in 2003 launched a five-year campaign to address the increasing rate of premature birth. For more information, visit the March of Dimes Web site at www.marchofdimes.com or its Spanish Web site at www.nacersano.org.
For free access to national, state and county-level statistics related to pregnancy and maternal and infant health, visit PeriStats, an interactive data resource from the March of Dimes at www.marchofdimes.com/Peristats.
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CORE GROUP OF NEWBORN SCREENING TESTS
RECOMMENDED BY THE MARCH OF DIMES
JUNE 2004
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY
Incidence: 1 baby in 20,000
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.
PHENYLKETONURIA (PKU)
Incidence: 1 baby in 14,000
An inability to properly process the essential amino acid phenylalanine, which then accumulates and damages the brain. PKU can result in severe mental retardation unless detected soon after birth and treated with a special formula. Affected individuals must be kept on a low phenylalanine diet at least throughout childhood, adolescence, and for females, during pregnancy.
CONGENITAL HYPOTHYROIDISM
Incidence: 1 baby in 3,000
A thyroid hormone deficiency that severely retards both growth and brain development. If detected soon after birth, the condition can be treated with oral doses of thyroid hormone to permit normal development.
CONGENITAL ADRENAL HYPERPLASIA (CAH)
Incidence: 1 baby in 19,000
CAH refers to a set of inherited disorders resulting from defects in the synthesis of hormones produced by the adrenal gland. Certain severe forms of CAH cause life-threatening salt loss from the body if undetected and untreated. Treatment includes salt replacement and hormone replacement.
BIOTINIDASE DEFICIENCY
Incidence: 1 baby in 60,000
Biotinidase is the enzyme that recycles biotin, a crucial B vitamin. Biotinidase deficiency may cause serious complications, including frequent infections, uncoordinated movement, hearing loss, seizures, and mental retardation. Undiagnosed and untreated, the deficiency can lead to coma and death. If the condition is detected soon after birth, these problems can be prevented simply by giving the baby extra biotin.
MAPLE SYRUP URINE DISEASE
Incidence: 1 baby in 230,000
A rare inborn error of metabolism that is lethal if unrecognized and untreated. There is a wide spectrum of this condition from mild to severe. Affected babies appear normal at birth but soon begin to have neurological symptoms. It is unusual for severely affected babies to survive the first month, and those who do usually have irreversible mental retardation. Rapid diagnosis and treatment are major factors in survival and mental development. Therapy consists of a special diet that requires frequent monitoring and must be continued indefinitely.
GALACTOSEMIA
Incidence: 1 baby in 50,000
Affected babies are missing the liver enzyme needed to convert galactose, a major sugar found in milk, into glucose, another simple sugar that the body can use. Galactose then accumulates in and damages the vital organs, leading to blindness, severe mental retardation, infection, and death. Milk and other dairy products must be eliminated from the baby's diet.
HOMOCYSTINURIA
Incidence: 1 baby in 340,000
A rare deficiency in the enzyme responsible for converting the amino acid homocysteine into cystathionine, which is needed by the brain for normal development. If undetected and untreated, homocystinuria leads to mental retardation, eye problems, skeletal abnormalities, and stroke. Treatment consists of a special diet, which for many patients includes high doses of vitamin B6 or B12, although treatment is not completely effective.
SICKLE CELL ANEMIA
Incidence: 1 baby in 3,700
Higher incidence among African-Americans (1 baby in 4003); less common among babies with other ethnic backgrounds
A blood disease that can cause severe pain, damage to the vital organs, stroke, and sometimes death in childhood. Young children with sickle cell anemia are especially prone to dangerous bacterial infections such as pneumonia and meningitis. Vigilant medical care and treatment with penicillin, beginning in infancy, can dramatically reduce the risk of these adverse effects and the deaths that result from them.
HEARING IMPAIRMENT
Incidence: 3-4 babies per 1,000
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 supports newborn hearing screening for every baby in every state because of the potential benefits, but is concerned about the current level of technology and intervention. Implementation of universal newborn hearing screening should occur only where adequate provisions are made to avoid oversight, ensure quality, and provide the necessary followup. Even so, parents need to be alert throughout childhood for hearing impairment. |
