Newborn screening tests

"Screening" means testing to see if a baby is more likely than other babies to have a disorder. Newborn screening tests dont tell if a baby definitely has a disorder. That kind of test is called a "diagnostic" test. If a babys screening tests show abnormal results, it does not mean the baby definitely has a disorder. It means that diagnostic testing is needed. Fortunately, most babies get a clean bill of health when tested. However, about 5,000 babies each year are found to have these serious conditions and more than 12,000 to have hearing impairment. In cases like these, early diagnosis and proper treatment can make the difference between healthy development and lifelong disability. How many disorders is a baby likely to be screened for? Nearly all babies born in the United States live in states that require screening for 21 or more disorders. Each state or region operates its own newborn screening program. State programs vary in the number and types of conditions for which they test, with some states testing for 21 conditions and others for 50 or more. What are some of the disorders for which babies are screened?

Phenylketonuria (PKU). The test for PKU was the nations 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 25,000. Babies with the disorder cannot process part of a protein 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 generally needs to be followed throughout the babys entire life. Women of childbearing age with PKU need to stay on the low-phenylalanine diet before and during pregnancy. Women with high levels of phenylalanine in their blood are at high risk of having a baby with mental retardation and heart defects. Congenital hypothyroidism (CH). CH is one of the most common disorders identified by newborn screening. It affects at least 1 baby in 5,000. CH is a thyroid hormone deficiency that slows 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. This disorder, which affects about 1 baby in 50,000, can cause blindness, mental retardation and even death in infancy. A baby with galactosemia is unable to convert galactose (a sugar 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 babys diet; this dietary restriction is lifelong. Sickle cell disease. This inherited blood disorder affects at least 1 in 5,000 of all babies in the United States. This includes 1 in 1,100 Hispanic babies born in the eastern United States and about 1 in 400 African-American babies nationwide. The disorder can cause anemia, pain, damage to vital organs 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 early treatment with penicillin, beginning in infancy, can dramatically reduce serious complications and death. Congenital adrenal hyperplasia (CAH). CAH is a group of disorders in which there is a deficiency of certain hormones, sometimes affecting genital development. It occurs in about 1 in 25,000 babies. In severe cases, CAH can cause life-threatening salt loss from the body. Affected individuals receive lifelong treatment with the missing hormones.

Biotinidase deficiency. This disorder, which affects about 1 baby in 75,000, can cause seizures, mental retardation, movement problems, hearing loss and, sometimes, coma and death. These symptoms result from an inherited lack of an enzyme that recycles the vitamin biotin. When detected in time, problems can be prevented with biotin supplementation. Hearing impairment. Moderate-to-severe hearing impairment affects about 1 to 3 in 1,000 newborns. Without testing, most babies with hearing impairment are not diagnosed until 2 or 3 years of age. By this time, they often have delayed speech and language development. Early identification of hearing impairment in the newborn allows the baby to be fitted with hearing aids before 6 months of age, helping prevent serious speech and language problems. What other disorders can newborn screening detect? Advances in technology, such as tandem mass spectrometry, make it possible to screen for about 55 disorders. In addition to the 29 treatable disorders, the March of Dimes recommends that states report screening results of 25 secondary target conditions. Treatment for these additional disorders generally is not yet available. The 29 treatable disorders are grouped into five categories: Organic acid metabolism disorders: Each disease in this group of inherited disorders results from the loss of activity of an enzyme involved in the breakdown 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 treatment, these disorders can result in coma and death during the first month of life. These disorders are:
y y y y y y y y y

IVA (isovaleric acidemia) GA I (glutaric acidemia) HMG (3-hydroxy 3-methylglutaric aciduria) MCD (multiple carboxylase deficiency) MUT (methylmalonic acidemia, mutase deficiency) 3MCC (3-methylcrotonyl-CoA carboxylase deficiency) Cbl A,B (methylmalonic acidemia) PROP (propionic acidemia) BKT (beta-ketothiolase deficiency)

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 most often occurs when an individual is ill or skips meals. Without treatment, the brain and many organs can be affected, sometimes progressing to coma and death. These disorders are:
y y y y y

MCAD (medium-chain acyl-CoA dehydrogenase deficiency) VLCAD (very long-chain acyl-CoA dehydrogenase deficiency) LCHAD (long-chain L-3-OH acyl-CoA dehydrogenase deficiency) TFP (trifunctional protein deficiency) CUD (carnitine uptake defect)

Amino acid metabolism disorders: This is a diverse group of disorders with varying degrees of severity. Some individuals lack enzymes that are needed to break down amino acids. Others have deficiencies in enzymes that help the body rid itself of nitrogen 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. These disorders are:

y y y y y y

PKU (phenylketonuria) MSUD (maple syrup urine disease) HCY (homocystinuria due to cystathionine beta-synthase [CBS] deficiency) CIT (citrullinemia) ASA (argininosuccinic acidemia) TYR I (tyrosinemia type I)

Hemoglobinopathies: These inherited diseases of red blood cells result in varying degrees of anemia (shortage of red blood cells) and other health problems. The severity of these disorders varies greatly from one person to the next. These disorders are: y Hb S/S (sickle cell anemia) y Hb S/A (hemoglobin S/beta-thalassemia) y Hb S/C (hemoglobin S/C disease) Others: This mixed group of disorders includes some diseases that are inherited and others that are not. The disorders vary greatly in severity, from mild to life-threatening. These disorders are: y CH (congenital hypothyroidism) y BIO (biotinidase deficiency) y CAH (congenital adrenal hyperplasia due to 21-hydroxylase deficiency) y GALT (classical galactosemia) y HEAR (hearing loss) y CF (cystic fibrosis) How are screening tests done? A blood test can detect all of these disorders, except for hearing impairment. A health care provider pricks the babys heel to obtain a few drops of blood for laboratory analysis. One blood sample can be used to screen for 55 or more disorders. Usually, the babys blood specimen is sent to a state laboratory for testing, and results are sent to the health care provider responsible for the infants care. If the tests show abnormal results, diagnostic testing is needed. Babies are screened for hearing impairment with one of two tests that measure how the baby responds to sounds. These tests are done in the hospital newborn nursery, using either a tiny soft earphone or microphone that is placed in the babys ear. If either of these tests shows abnormal results, the baby needs more extensive hearing testing to see if he does have hearing loss. How soon after birth should screening tests be done? Every newborn should be screened before hospital release, usually at 24 to 48 hours of life. Some of the tests may not give accurate results if they are done too soon after birth. However, because of early hospital discharge, some babies are tested within the first 24 hours of life. Therefore, some states routinely screen twice, in the newborn nursery and again about 2 weeks later. Most babies also have a hearing test before they are discharged from the hospital. Babies born outside the hospital should have newborn screening tests before the seventh day of life. What does an abnormal test result mean? Parents should not be overly alarmed by abnormal test results. The initial screening tests give only preliminary information that must be immediately followed by more precise testing. These follow-up tests usually show that the baby is healthy and does not have the disorder. What should a parent do if his child is diagnosed with one of the conditions? The child may need follow-up treatment at a pediatric center that specializes in children with these conditions. It is essential for the childs healthy development that parents follow the health care providers treatment recommendations. As the child grows, he may need careful, continued evaluations and monitoring.

If one child in a family has a disorder, will other children have it, too? Almost all the disorders detected by newborn screening are inherited. The exceptions are congenital hypothyroidism and, in some cases, hearing impairment. When one child in a family is affected by one of the inherited disorders, the chance of the same birth defect occurring in a sibling is 1 in 4. The chances remain the same with each pregnancy. Parents can discuss their risk of having another affected child with their health care provider or a genetic counselor. These disorders are inherited when both parents have the same abnormal gene and pass it on to their baby. A parent who has the abnormal gene, but not the disease, is called a carrier. The health of a carrier is rarely affected. Hearing loss can be inherited. However, there are other causes of hearing loss that are not inherited, such as infections that are passed to the baby during pregnancy or birth. Hearing loss caused by something like an infection is not likely to recur in another pregnancy. Congenital hypothyroidism usually is not inherited from parents. The siblings of those who have this disorder are seldom affected.