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The Wayback Machine - https://web.archive.org/all/20041030013550/http://www.marchofdimes.com:80/professionals/682_4043.asp
October 29, 2004
Newborn Screening
March of Dimes Newborn Screening Recommendations Currently, tests are available for over 30 inborn errors of body chemistry. Babies are not tested for all of these disorders for a number of reasons, including the fact that not all of these disorders are treatable.
The March of Dimes would like to see all babies, in all states, screened for at least 30 specific inborn errors among them: PKU, congenital hypothyroidism, congenital adrenal hyperplasia (CAH), biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, sickle cell anemia, medium chain acyl-CoA dehydrogenase deficiency (MCAD), as well as hearing screening. Of the 30 disorders the following are the most commonly seen and treatment is likely to improve the health those children affected by them:
Phenylketonuria (PKU) All states screen newborns for phenylketonuria (PKU). PKU was the nation’s first newborn screening test. Developed with the help of the March of Dimes, it has been routinely administered since the 1960s. PKU affects about 1 baby in 14,000. It is less common in babies of non-European ancesrty.
Babies with the disorder cannot process a substance called phenylalanine, which is found in nearly all foods. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation.
When PKU is detected early, mental retardation can be prevented by feeding the baby a special formula that is low in phenylalanine. This low-phenylalanine diet will need to be followed throughout adolescence and, generally, for life.
Women of childbearing age with PKU need to remain on this special diet prior to and during pregnancy. This will reduce the risk of mental retardation in their children by avoiding fetal exposure to high maternal phenylalanine levels. Primary Congenital Hypothyroidism Congenital hypothyroidism is the most common disorder identified by routine screening. It affects about 1 baby in 3,000.
Congenital hypothyroidism is a thyroid hormone deficiency that retards growth and brain development. If it is detected in time, a baby can be treated with oral doses of thyroid hormone to permit normal development.
Galactosemia Galactosemia, which affects about 1 baby in 50,000, can cause death in infancy, or blindness and mental retardation. A baby with galactosemia is unable to convert galactose, a sugar present in milk, into glucose, a sugar the body uses as an energy source. The treatment for galactosemia is to eliminate milk and all other dairy products from the baby’s diet; this dietary restriction is lifelong.
Sickle Cell Anemia More than 40 states screen newborns for sickle cell anemia, an inherited blood disease that can cause bouts of pain; damage to vital organs such as the lungs, kidneys and brain; and sometimes, serious infections and death in childhood. Sickle cell anemia affects about 1 in 3,700 babies overall, with a higher incidence in African-American babies (about 1 in 400) and a lower frequency among people of other ethnic backgrounds.
Early treatment can prevent some of the complications of sickle cell anemia. Young children with the disease are especially prone to certain dangerous bacterial infections, such as pneumonia and meningitis. Studies in recent years have shown that treatment with penicillin, beginning by 2 months of age and continuing to about 5 years, dramatically reduces the risk of these infections and the deaths that result from them. Newborn screening alerts the physician to begin antibiotic treatment before infections begin.
Classical Congenital Adrenal Hyperplasia (CAH) More than 25 states test for CAH. This group of disorders, in which there is a deficiency of certain hormones, affects genital development and, in severe cases, can disturb kidney function and cause death. Lifelong treatment with the missing hormones suppresses this disease, which occurs in about 1 in 19,000 babies.
Biotinidase Deficiency One newborn screening test, developed by a March of Dimes grantee, detects biotinidase deficiency. About 20 states screen for this disorder.
Biotinidase is an enzyme that recycles biotin, one of the B vitamins, in the body. A deficiency of this enzyme, which occurs in about 1 in 60,000 babies, may cause frequent infections, hearing loss, mental retardation and even death. If the deficiency is detected in time, problems can be prevented by giving the baby extra biotin.
Maple Syrup Urine Disease and Homocystinuria Maple syrup urine disease and homocystinuria are rare life-threatening disorders. Maple syrup urine disease occurs in about 1 in 230,000 babies. Homocystinuria occurs in about 1 in 340,000 babies. About 20 states screen for maple syrup urine disease, and 15 for homocystinuria.
MCAD At least eight states are now testing for MCAD, a disorder that can cause sudden death in infancy and serious disabilities in survivors, such as mental retardation. MCAD affects about 1 baby in 20,000.
Normally the body burns fat for energy when it runs out of stored sugar (glucose). Babies with MCAD cannot make this switch, so they may suddenly develop seizures, respiratory failure, cardiac arrest or go into a coma if they do not eat regularly or get infections or other illnesses. When diagnosed early, the disorder can be successfully treated with a steady food intake and avoidance of fasting.
Hearing Impairment About half of all states now screen newborns for hearing impairment. Approximately 3-4 in 1,000 babies have significant hearing impairment.
Without testing, most babies with hearing loss are not diagnosed until 2 to 3 years of age. By this time, they often have delayed speech and language development. Detection of hearing loss in the neonatal period allows the baby to be fitted with hearing aids before 6 months of age. Recent studies show that this early intervention helps prevent serious speech and language problems.
Additional Tests In addition to the disorders described above,he March of Dimes also recommends all newborns be tested for the following disorders:
Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
Methylmalonic acidemia (Cbl A,B)
Methylmalonic acidemia (mutase deficiency) (MUT)
Multiple carboxylase deficiency (MCD)
Propionic acidemia (PROP)
Trifunctional protein deficiency (TFP)Tyrosinemia type I (TYR I) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
References Gaffney, M., et al. Infants tested for hearing loss—United States, 1999-2001. Morbidity & Mortality Weekly Report, volume 52, 2003, pages 981-984.
General Accounting Office. Newborn screening characteristics of state programs. Publication GAO-03-449. Washington, D.C.
Lorey, F.W., et al. Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state. Genetic Epidemiology, volume 13, 1998, pages 501-512.
National Center for Hearing Assessment and Management, Utah State University, EDHI/UNHSI Resource Center. Accessed June 25, 2004.
Wang, S.S., et al. Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review. Genetics in Medicine, volume 1, 1999, pages 332-339.
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