Screening tests

Before your baby leaves the hospital, a small amount of his or her blood is taken and sent to the state health department. This sample, which may be taken from a vein in your baby's arm or a tiny cut made on the heel, is analyzed to detect the presence of rare but important medical conditions. Results should be available by your baby's first office exam.

Occasionally, a baby needs to have the test repeated. Don't be alarmed if this happens to your newborn. To ensure that every newborn with any of these conditions is identified, even borderline results are rechecked. Retesting is especially common for premature babies.

Although newborn screening tests differ slightly from state to state, disorders that are commonly tested for include:

• Phenylketonuria (PKU). Babies with PKU retain excessive amounts of phenylalanine, an amino acid found in the protein of almost all foods. Without treatment, PKU can cause mental and motor retardation, poor growth rate and seizures. With early detection and treatment, growth and development should be normal.

• Congenital hypothyroidism. About one in 3,000 babies have a thyroid hormone deficiency that slows growth and brain development. Left untreated, it can result in mental retardation and stunted growth. With early detection and treatment, normal development is possible.

• Congenital adrenal hyperplasia (CAH). This group of disorders is caused by a deficiency of certain hormones. Signs and symptoms may include lethargy, vomiting, muscle weakness and dehydration. Infants with mild forms are at risk of reproductive and growth difficulties. Severe cases can cause kidney dysfunction and even death. Lifelong hormone treatment can suppress the disease.

• Galactosemia. Babies born with galactosemia can't metabolize galactose, a sugar found in milk. Although newborns with this condition typically appear normal, they may develop vomiting, diarrhea, lethargy, jaundice and liver damage within a few days of their first milk feedings. Untreated, the disorder may result in mental retardation, blindness, growth failure and, in severe cases, death. Treatment includes eliminating milk and all other dairy (galactose) products from the diet.

• Biotinidase deficiency. This deficiency is caused by the lack of an enzyme called biotinidase. Signs and symptoms include seizures, developmental delay, eczema and hearing loss. With early diagnosis and treatment, all signs and symptoms can be prevented.

• Maple syrup urine disease (MSUD). This disorder affects the metabolism of amino acids. Newborns with this condition typically appear normal but will experience feeding difficulties, lethargy and failure to thrive by the first week of life. Left untreated, MSUD can result in coma or death.

• Homocystinuria. Caused by an enzyme deficiency, this disorder can lead to eye problems, mental retardation, skeletal abnormalities and abnormal blood clotting. With early detection and management — including a special diet and dietary supplements — growth and development should be normal.

• Sickle cell disease. This inherited disease prevents blood cells from circulating easily throughout the body. Affected infants will have an increased susceptibility to infection and slow growth rates. The disease can cause bouts of pain and damage to vital organs such as the lungs, kidneys and brain. With early medical treatment, the complications of sickle cell disease can be minimized.

• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. This rare hereditary disease results from the lack of an enzyme required to con vert fat to energy. Serious life-threatening signs and symptoms and even death can occur. With early detection and monitoring, children diagnosed with MCAD can lead normal lives.

• Cystic fibrosis (CF). This genetic disease causes the body to produce abnormally thickened mucous secretions in the lungs and digestive system. Signs and symptoms include salty-tasting skin, persistent coughing, shortness of breath and poor weight gain. Affected newborns can develop life-threatening lung infections and intestinal obstructions. With early detection and treatment plans, infants diagnosed with CF can live longer and in a better state of health than they did in the past.

• Hearing screening. While your baby is in the hospital, he or she may have a hearing test. Although not done routinely at every hospital, newborn hearing screening is becoming widely available. Hearing loss affects about five out of 1,000 newborns. This screening can detect possible hearing loss in the first days of a baby's life. If a possible hearing loss is found, further tests can confirm the results.

These two tests are used to screen a newborn's hearing. Both are quick (about 10 minutes), painless and can be done while your baby sleeps.

• Automated auditory brainstem response. This test measures how the brain responds to sound. Clicks or tones are played through soft earphones into the baby's ears while electrodes taped on the baby's head measure the brain's response.

• Otoacoustic emissions. This test measures responses to sound waves presented to the ear. A probe placed inside the baby's ear canal measures the response when clicks or tones are played into the baby's ear.

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