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Particular Disorders Screened For

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Newborn screening is different from state to state and is subject to change. However, there are several disorders that are normally included in newborn screening programs. Below is a list of those disorders that are most commonly screened for as well as a description and treatments available for them.

• PKU (phenylketonuria): Infants diagnosed with this disorder cannot process a material called phenylalanine that is present in nearly all food. If the infant is not treated properly, phenylalanine builds up in the child's bloodstream and results in brain damage and mental retardation. If this disorder is diagnosed early enough, feeding a newborn a special formula low in phenylalanine can prevent mental retardation. This low-phenylalanine diet will need to be continued throughout the child's adolescence and maybe even until adulthood, and eliminates all high-protein foods. The incidence rate for PKU is 1 in 10,000 to 25,000.All states and U.S. territories administer a newborn screening test for PKU.
• Hypothyroidism: Hypothyroidism is the disorder most frequently diagnosed by routine newborn screening tests. Infants with this illness have a hormone deficiency that slows down growth and brain development. If hypothyroidism is discovered early, a child can be remedied with oral doses of the hormone to allow routine development. All states and U.S. territories administer a newborn screening test for hypothyroidism.
• Congenital adrenal hyperplasia (CAH): Babies with CAH are lacking in specific hormones. This disorder disturbs genital development and, if acute enough, can cause kidney malfunction and death. CAH can be suppressed by permanent treatment with the absent hormone.
• Sickle Cell Anemia: Infants with this disorder experience episodes of pain; injury to vital organs such as the kidneys, brain, and lungs; and, at times, severe infections and death in childhood. Sickle cell anemia is an inherited blood disease whose red blood cells stretch into abnormal "sickle" shapes. Complications can be treated, to some extent, if detected and treated early enough. Newborns and infants with sickle cell anemia are particularly susceptible to certain dangerous bacterial infections, such as pneumonia and meningitis.
• Galactosemia: Babies diagnosed with galactosemia lack the enzyme that converts galactose, a sugar found in milk, into glucose, a sugar that the body draws on to get energy from. This disorder can result in acute mental retardation, growth deficiency, blindness, and sometimes death in infancy. The treatment plan for galactosemia involves getting rid of all milk and any other dairy product from the infant's diet. There are several less acute forms of galactosemia that may not require the newborn be treated. 1 in 60,000 to 80,000 newborns are treated for galactosemia.
• Cystic fibrosis: This inherited disorder is expressed in the different organs that instigate cells to discharge a thick mucus, which can result in stunted growth, complications with digestion, and chronic respiratory disease. Although there is no known cure, some infections can be prevented with the proper antibiotics. Treatment plans also include attempting to hinder acute lung infections from occurring that are connected with the disorder as well as providing sufficient nutrition. If the disease is discovered early enough, it helps to decrease the lung and nutritional problems connected with cystic fibrosis.

Most states also require infants to have a hearing screening before they are discharged from the hospital. It is very important for a newborn to get screened for hearing within the first three weeks of life. If loss of hearing is detected early, doctors can treat it so it does not hinder vital speaking and language skills.

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