Family Doctor 2007 - (Page 197) pregnancy & newborn SCREENING TESTS Newborn screening tests help to ensure your baby is happy and healthy. Newborn screening tests are done before you and your baby leave the hospital. They detect harmful or potentially fatal disorders, so that action can be taken before symptoms develop. Read on for a rundown of the tests. By Angelike M. Gaunt Newborn screening tests: Possible lifesavers N ewborn screening tests can help you and your doctor offer the best care for your baby. Most babies are born healthy. However, some babies who look healthy may treatment, PKU may cause brain damage and mental retardation. Galactosemia can cause blindness, slow growth, mental retardation and death if it’s not found early. Babies who have this disorder cannot convert galactose, a sugar found in milk and dairy products, into glucose, a sugar that the body uses for energy. Treatment for galactosemia involves eliminating milk (including breast milk) and all other kinds of dairy from the baby’s diet. Sickle cell disease is a blood disease that causes episodes of pain and may damage a baby’s organs. Children who have sickle cell disease are at higher risk of serious bacterial infections such as pneumonia and meningitis. Early detection and treatment can prevent infections and other problems. Congenital adrenal hyperplasia (CAH) is a group of disorders caused by a hormone deficiency. CAH affects the development of genitals and, in very serious cases, may affect the kidneys and cause death. CAH may be treated by replacing the missing hormones. Cystic fibrosis can lead to chronic respiratory disease, problems with digestion and poor growth. There is no cure for cystic fibrosis, but finding and treating it early with antibiotics and a healthy diet may help prevent serious lung infections. Angelike M. Gaunt is an associate editor with the American Academy of Family Physicians, headquartered in Leawood, Kan. have rare birth defects that cannot be seen. Newborn screening tests help find serious problems that may not be noticeable at first, but can cause physical problems, mental retardation and, in some cases, death. The earlier these conditions are found, the earlier they can be treated. All U.S. states require that certain newborn screening tests be done soon after birth. But test requirements may be different from state to state. Ask your doctor which tests are done in your state and if your baby needs any other tests. Newborn screening tests are done before you and your baby leave the hospital. Following your doctor’s orders, hospital staff will check your baby’s hearing and take a few drops of blood from your baby’s heel. If hearing loss is found before the baby is 6 months old, he or she can be fitted with hearing aids early, which helps prevent speech and language problems. The following are some of the problems that can be found by testing a baby’s blood: Hypothyroidism is caused by a thyroid hormone deficiency that slows growth and brain development. When detected early, hypothyroidism may be easily treated with oral medicines to replace the missing hormones. This test is required in all U.S. states. Phenylketonuria (also called PKU) is a disorder where a baby is unable to process phenylalanine, a substance that is found in almost all foods. Babies who cannot process phenylalanine need to take a special formula and may have to follow a low-protein diet during childhood, adolescence and possibly adulthood. Without ADDITIONAL INFORMATION American Academy of Family Physicians http://familydoctor.org National Library of Medicine http://www.nlm.nih.gov/medlineplus/childrenshealth.html familydoctor 2007 197 http://familydoctor.org http://www.nlm.nih.gov/medlineplus/childrenshealth.html
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