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WHITE PLAINS, N.Y., JULY 11, 2007 – Nearly 90 percent of all babies born in the United States – more than double the percentage in 2005 – live in states that require screening for at least 21 life-threatening disorders, according to the latest March of Dimes Newborn Screening Report Card.
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 [See list below]. 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 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.
Contact: Elizabeth Lynch elynch@marchofdimes.com 914-997-4286 March of Dimes Foundation
source: 11jul2007
[All links are offsite]
The March of Dimes would like to see all babies in all states screened for the
following 29 disorders, for which effective treatment is available. This
recommendation is based on endorsement of a report by the American College of
Medical Genetics (ACMG) urging screening for these disorders. The report was
commissioned by the U.S. Health Resources and Services Administration.The 29
disorders can be grouped into five categories:
Each of the disorders is described below.
The March of Dimes also urges states to provide test results for an additional 25 "reportable" conditions named in the ACMG report. There are reliable tests for these conditions, but not yet documented treatments.
You can find out which tests are routinely done in your state by asking
your health care provider or state health department. You can also visit the
Web site of the National
Newborn Screening and Genetics Resource Center.
Amino Acid Metabolism Disorders
This is a diverse group of disorders, with varying degrees of severity.
Some affected individuals lack enzymes that are needed to break down the
building blocks of protein called amino acids. Others have deficiencies in
enzymes that help the body rid itself of the nitrogen incorporated in amino
acid molecules. Toxic levels of amino acids or ammonia can build up in the
body causing a variety of signs and symptoms, and even death.
PKU = Phenylketonuria
Incidence: greater than 1 in 25,000(1)
Affected individuals have 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.
MSUD = Maple syrup urine disease
Incidence: less than 1 in 100,000(1)
This inborn error of metabolism can be lethal if unrecognized and untreated. There is a wide spectrum of clinical presentations, from mild to severe. Affected babies appear normal at birth but soon begin to have neurological symptoms. The disorder gets its name from the fact that the urine smells like maple syrup. Without dietary treatment, severely affected babies do not survive the first month; even those who do receive treatment may have irreversible mental retardation. Rapid diagnosis and treatment are major factors in survival and outcome. Treatment consists of a special low-protein diet, which will vary depending on severity of symptoms, and sometimes, supplementation with a vitamin, thiamin. The diet must be continued indefinitely with frequent monitoring.
HCY = Homocystinuria
Incidence: less than 1 in 100,000(1)
Individuals with this disorder lack an enzyme responsible for converting the amino acid homocysteine into cystathionine, which is needed for normal brain development. If undetected and untreated, homocystinuria leads to mental retardation, eye problems, skeletal abnormalities, and stroke. Treatment consists of a special diet, one or more vitamins (B6 or B12), and other supplements (betaine).
CIT = Citrullinemia
Incidence: less than 1 in 100,000(1)
Build-up in the body of citrulline and ultimately ammonia can begin during the newborn period or later in infancy. Without treatment, seizures, coma, brain damage and death can result. With early diagnosis and treatment, normal development is possible. Treatment includes a low-protein diet, medications to rid the body of amino groups to prevent ammonia build-up, and nutritional supplements.
ASA = Argininosuccinic acidemia
Incidence: less than 1 in 100,000(1)
Most commonly, symptoms begin in the first few days of life, with build-up of argininosuccinic acid and ultimately ammonia resulting in brain swelling, coma and, sometimes, death. Survivors often suffer permanent neurological damage. Other affected children may develop symptoms later in infancy or childhood. Early diagnosis and treatment can be lifesaving; however, in spite of treatment, affected individuals remain susceptible to episodes of ammonia build-up, and most have some degree of brain damage. Treatment consists of a low-protein diet, avoiding fasting, medications to prevent ammonia build-up, nutritional supplements, and in some cases, liver transplant.
TYR I = Tyrosinemia type I
Incidence: less than 1 in 100,000(1)
Due to absence of an enzyme, byproducts of the amino acid tyrosine,
particularly a very toxic compound called succinylacetone, build up in the
liver. Without treatment, symptoms generally begin in the first few weeks or
months of life and progress to liver or kidney failure, nerve damage and
death. Drug treatment, sometimes along with a low-protein diet, is very
effective in preventing liver and kidney damage.
Organic Acid Metabolism Disorders
Each disease in this group of inherited disorders results from the loss
of activity of an enzyme involved in the break down of amino acids, the
building blocks of proteins, and other substances (lipids, sugars, steroids).
When any of these chemicals is not properly broken down, toxic acids build up
in the body. Without dietary treatment and prevention of acute episodes, these
disorders can result in coma and death during the first month of life.
IVA = Isovaleric acidemia
Incidence: less than 1 in 100,000(1)
This disorder is caused by an inability to process the amino acid leucine. The newborn form of the disorder often results in coma, permanent neurological damage, and death. In other cases, symptoms develop later in infancy and childhood, frequently following an infectious illness. With early diagnosis and treatment, most children have normal development. Treatment includes a low-protein diet and nutritional supplements.
GA I = Glutaric acidemia type I
Incidence: greater than 1 in 75,000(1)
Babies may develop normally for up to 18 months until something affects a child’s health, such as a mild viral illness, which may trigger the onset of symptoms. Without prompt treatment, this can lead to brain damage, seizures, low muscle tone, cerebral-palsy like symptoms and death within the first decade of life. Some affected babies also are born with an enlarged head (macrocephaly). Treatment can vary, but may include dietary protein restriction and supplementation with a nutrient called L-carnitine. With early diagnosis and prompt treatment of illness and fever, brain damage may be prevented.
HMG = Hydroxymethylglutaric aciduria or HMG-CoA lyase
deficiency or 3-OH 3-CH3 glutaric aciduria
Incidence: less than 1 in 100,000(1)
An inability to process the amino acid leucine leads to low blood sugar and accumulation of several organic acids, especially following illness or fasting. Without treatment, the disorder can lead to brain damage, mental retardation, coma and death. Avoiding fasting and following a diet low in protein and fat and high in carbohydrates can lead to normal development.
MCD = Multiple carboxylase deficiency
Incidence: less than 1 in 100,000(1)
This disorder is caused by a defect of an enzyme required to activate several biotin-dependent enzymes. Without these enzymes, lactic acid and other organic acids build up in the body. Without treatment, brain damage, coma and death can result. Symptoms usually begin between birth and 15 months of age, and may include skin rashes and hair loss. Early diagnosis and treatment with biotin allows normal growth and development.
MUT = Methylmalonic acidemia due to mutase deficiency
Incidence: greater than 1 in 75,000(1)
A defect in the processing of four essential amino acids and other substances results in illness in the first week of life. Though severity of symptoms varies greatly, death during the first month of life and brain damage in survivors is common. Treatment includes a low-protein diet, vitamin B12 injections, and nutritional supplements. Some children die during the first year of life or develop brain damage despite nutritional intervention.
Cbl A,B = Methylmalonic acidemia cblA and cblB forms
Incidence: less than 1 in 100,000(1)
This inherited defect of vitamin metabolism can lead to build-up of acids in the blood and result in brain damage, seizures, paralysis, coma and death. Symptoms can begin as early as the first week of life, though a minority of affected individuals remain symptom-free. Treatment with vitamin B12 injections and a low-protein diet often prevents serious problems.
3MCC = 3-Methylcrotonyl-CoA carboxylase deficiency
Incidence: greater than 1 in 75,000(1)
This defect in processing the amino acid leucine can lead to brain damage, seizures, liver failure and death in infancy or no symptoms at all into adulthood. Symptoms often develop following a childhood illness. Treatment with a low-protein diet and, in some cases, nutritional supplements may be helpful. (An abnormal result by newborn screening could be related to abnormal metabolites in the mother and not the baby. This will be clarified by further diagnostic testing of the infant.)
PROP = Propionic acidemia
Incidence: greater than 1 in 75,000(1)
This defect in the processing of four essential amino acids leads to illness during the newborn period. Without treatment, brain damage, coma and death can result. Even with treatment, including a low-protein diet and nutritional supplements, some affected children suffer from developmental delays, seizures, abnormal muscle tone, frequent infections and heart problems.
BKT = Beta-Ketothiolase deficiency
Incidence: less than 1 in 100,000(1)
Periodic episodes of acid build-up, often triggered by some childhood illness,
can progress to coma, brain damage and death. These serious consequences are
most often seen in infants. With early diagnosis and prompt intravenous
treatment to keep blood sugar levels up and blood acid levels down during an
illness, children can develop normally. Parents must be alert to early signs
of illness. Additional treatments may vary, but can include avoidance of
protein-rich diets and long-term treatment with bicarbonate.
Fatty Acid Oxidation Disorders
This group of disorders is characterized by inherited defects of
enzymes needed to convert fat into energy. When the body runs out of glucose
(sugar), it normally breaks down fat to support production of alternate fuels
(ketones) in the liver. Because individuals with these disorders have a block
in this pathway, their cells suffer an energy crisis when they run out of
glucose. This is most likely to occur when an individual is ill or skips
meals. Without treatment, the brain and many organs can be affected, sometimes
progressing to coma and death.
MCAD = Medium-chain acyl-CoA dehydrogenase deficiency
Incidence: greater than 1 in 25,000(1)
Seemingly well infants and children can suddenly develop seizures (caused by low blood sugar), liver failure, coma, and death. Identifying affected children before they become ill is vital to preventing a crisis and averting these consequences. Treatment includes avoidance of fasting and nutritional supplements.
VLCAD = Very long-chain acyl-CoA dehydrogenase deficiency
Incidence: greater than 1 in 75,000(1)
Symptoms can first appear at any age from the newborn period through adulthood, but tend to be most severe in infants. Without treatment, affected infants often develop heart and liver failure and die during the first year of life. Treatment includes a high-carbohydrate/low-fat diet, nutritional supplements, avoidance of fasting and prolonged exercise.
LCHAD = Long-chain 3-OH acyl-CoA dehydrogenase deficiency
Incidence: greater than 1 in 75,000(1)
Symptoms can begin soon after birth, resulting in heart, lung or liver failure and death. In other cases, symptoms such as low muscle tone, developmental delay, heart, lung or liver failure may develop later in infancy or childhood, most likely following an illness. Early diagnosis and treatment effectively prevent life-threatening events, though some children may still develop symptoms. Treatment includes a high-carbohydrate/low-fat diet, nutritional supplements, and avoidance of fasting. Women who are pregnant with fetuses with LCHAD are at increased risk of developing acute fatty liver of pregnancy and other pregnancy complications.
TFP = Trifunctional protein deficiency
Incidence: less than 1 in 100,000(1)
A seemingly healthy infant can die suddenly of what appears to be sudden infant death syndrome. Other infants may develop low muscle tone, seizures, heart failure and coma, often following an illness. Treatment is based on strict avoidance of fasting, a low-fat diet and nutritional supplements.
CUD = Carnitine uptake defect
Incidence: less than 1 in 100,000(1)
Due to a missing transporter, cells cannot bring in carnitine from the blood. Carnitine is needed for the transfer of fatty acids across the membranes of the mitochondria (cellular organelles that produce energy for the cell). Symptoms include episodes of hypoglycemia (low blood sugar) and sudden unexpected death in infancy. Older children may present with progressive heart failure. Early diagnosis and treatment with carnitine permits normal development.
Hemoglobinopathies
These inherited diseases of red blood cells result in varying degrees of
anemia (shortage of red blood cells), serious infections, pain episodes, and
damage to vital organs. The symptoms are caused by abnormal kinds and/or
amounts of hemoglobin, the main protein inside red blood cells that carries
oxygen from the lungs and takes it to every part of the body. In the sickling
disorders, an abnormal hemoglobin called HbS can cause some red blood cells to
become stiff and abnormally shaped. The stiffer red blood cells can get stuck
in tiny blood vessels, causing pain and sometimes organ damage. The severity
of these disorders varies greatly from one person to the next.
Hb SS = Sickle cell anemia
Incidence: greater than 1 in 5,000(1); higher incidence among
African-Americans (1 in 400)(2)
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 can result from them. Affected babies should receive all regular childhood vaccinations (including hemophilus influenza B and pneumococcal vaccines) to help prevent serious bacterial infections. Additional treatments may vary according to severity of symptoms, but may include intermittent pain medications and regular blood transfusions.
Hb S/Th = Hb S/Beta-Thalassemia
Incidence: greater than 1 in 50,000(1)
In this form of sickle cell anemia, the child inherits one sickle cell gene and one gene for beta thalassemia, another inherited anemia. Symptoms are often milder than for Hb SS, though severity varies among affected children. Routine treatment with penicillin may not be recommended for all affected children.(3)
Hb S/C = Hb S/C disease
Incidence: greater than 1 in 25,000(1)
Another form of sickle cell disease, in which the child inherits one sickle cell gene and one gene for another abnormal type of hemoglobin called HbC. As with Hb S/Th, this form is often milder the Hb SS and routine penicillin treatment may not be recommended.(3)
Others
This mixed group of disorders includes some diseases that are inherited and
others that are not genetic. This group of disorders varies greatly in
severity, from mild to life-threatening.
CH = Congenital hypothyroidism
Incidence: greater than 1 in 5,000(1)
This thyroid hormone deficiency severely retards both growth and brain
development. If detected soon after birth, the condition can be treated simply
with oral doses of thyroid hormone to permit normal development.
BIOT = Biotinidase deficiency
Incidence: greater than 1 in 75,000(1)
Biotinidase is the enzyme that recycles the vitamin biotin. An inherited deficiency of this enzyme 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 completely prevented with daily oral doses of biotin.
CAH = Congenital adrenal hyperplasia
Incidence: greater than 1 in 25,000(1)
CAH refers to a set of inherited disorders resulting from defects in the synthesis of hormones produced by the adrenal gland. In female infants, CAH sometimes results in masculinization of the genitals. Certain severe forms of CAH cause life-threatening salt loss from the body if undetected and untreated. Treatment includes salt replacement and hormone replacement.
GALT = Classical galactosemia
Incidence: greater than 1 in 50,000(1)
Affected babies are missing the liver enzyme needed to convert galactose, a major sugar from the breakdown of lactose in milk, into glucose, another simple sugar that the body can use. Galactose then accumulates in and damages vital organs, leading to blindness, severe mental retardation, infection, and death. Milk and other dairy products must be eliminated from the baby’s diet for life. Though treatment dramatically improves the outlook for affected infants, there is still some risk of developmental delays.
HEAR = Hearing loss
Incidence: greater than 1 in 5,000(1); up to 3-4 per 1,000 newborns(4)
Without early testing, most babies with hearing loss are not diagnosed until 2 or 3 years of age. By this time, they often have delayed speech and language development. Early diagnosis allows use of hearing aids by 6 months of age, helping prevent serious speech and language problems.
CF = Cystic fibrosis
Incidence: greater than 1 in 5,000(1)
Cystic fibrosis is one of the most common inherited disorders in the U.S.
Abnormalities in the cystic
fibrosis protein result in lung and digestive problems, and death at an
average age of 30-35 years. Studies suggest that early diagnosis and treatment
improves the growth of babies and children with CF. Treatment varies depending
on severity of symptoms, but may include a high-calorie diet supplemented with
vitamins and medications to improve digestion, respiratory therapy to help
clear mucus from the lungs, and medications to improve breathing and prevent
lung infections.
For a full copy of the report upon which the March of Dimes recommendation was
based, click here.
In 2006, the American Academy of Pediatrics updated its fact
sheets on several of the disorders described above (Pediatrics, vol. 118,
September 2006, pp. e934-e963).
References
1. American College of Medical Genetics. Newborn
Screening: Toward a Uniform Screening Panel and System. Final Report,
March 8, 2005.
2. General Accounting Office. Newborn Screening: Characteristics of State Programs. Washington, DC: General Accounting Office, 2003. Publication GAO-03-449. Data from the National Newborn Screening and Genetics Resource Center.
3. American Academy of Pediatrics Section on Hematology/Oncology Committee on Genetics. Health Supervision for Children with Sickle Cell Disease, Pediatrics, volume 109, number 3, March 2002, pages 526-535.
4. National Center for Hearing Assessment and Management, Utah State University.
Additional References
National Library of
Medicine Genetics Home Reference
Northwest Regional Newborn Screening Program, Portland, OR.
April 2006 (updated September 2006)
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