Newborn Screenings

The screening of newborns is one of the largest disease prevention programs in the country. Each year some 4 million babies have tiny amounts of their blood tested for genetic and metabolic diseases. According to the National Center for Environmental Health, approximately 3,000 babies are found to have severe disorders each year. As a result of the screenings, they are treated and in many cases problems - such as mental retardation, illnesses and even death - are avoided or minimized.

Screening tests are done before the baby leaves the hospital. For most, the baby's heel is pricked to obtain a few drops of blood for the lab to analyze. A hearing test can also be performed. (Read about "The Ear and Hearing")

The March of Dimes (MOD) recommends that newborns should be screened for 29 disorders. Not all states, however, require this. You can ask your doctor or state health department which tests are required in your state.

Some of the screening tests that most states use, according to MOD, include:

• Phenylketonuria (PKU) - Phenylketonuria or PKU is an inherited disorder of body chemistry that, if untreated, causes mental retardation. This test, developed with the help of MOD, has been administered since the 1960's. Babies with PKU cannot process a part of protein called phenylalanine, which is found in nearly all foods. If phenylalanine builds up in the blood, it can cause brain damage and mental retardation. But if PKU is detected early, a special formula low in phenylalanine can be used. A low-phenylalanine diet will need to be followed for life.
• Hypothyroidism - In this condition, thyroid hormone deficiency can retard growth and brain development. (Read about "Thyroid" "The Brain") Mod says if it is detected in time, a baby can be treated with oral doses of thyroid hormone to permit normal development.
• Galactosemia - With this condition, a baby cannot convert a sugar in milk (galactose) into the glucose the body's need. The treatment is to eliminate milk and dairy products from the diet for life, otherwise blindness, mental retardation or even death can result. (Read more about galactosemia in "The Liver")
• Sickle cell disease - Sickle cell disease is an inherited disease of red blood cells, marked by pain, infections and damage to organs. Early treatment can help reduce some of the complications. MOD says it is especially common among African-Americans and Hispanic-Americans. (Read about "Sickle Cell Disease")
• Congenital adrenal hyperplasia (CAH) - This is an adrenal gland disorder, marked by a deficiency of important corticosteroid hormones. Treatment involves replacement of the missing hormones.
• Hearing loss - MOD says that up to 4 in 1,000 newborns have significant hearing impairment. If hearing problems are not detected early, there can be delayed speech and language development. Early detection allows the baby to be fitted with hearing aids before 6 months of age, helping to prevent serious speech and language problems.

MOD says it would like to see newborn screenings expanded in all states to include at least 29 disorders. MOD says this is because all these disorders are treatable, if caught early. The disorders fall into 5 categories:

• Amino acid metabolism disorders - In these disorders, the body lacks enzymes needed to deal with amino acids, which are the building blocks of protein. As a result, toxic levels of amino acids or waste products can build up, causing a variety of symptoms, and even death. These conditions include:
  • PKU (phenylketonuria)
  • MSUD (maple syrup urine disease)
  • HCY (homocystinuria due to CBS deficiency)
  • CIT (citrullinemia)
  • ASA (argininosuccinic acidemia)
  • TYR I (tyrosinemia type I)
• Organic acid metabolism disorders - These disorders involve problems with an enzyme involved in the breakdown of amino acids (the building blocks of proteins) and other substances (lipids, sugars, steroids). Without treatment, toxic acids build up in the body. These conditions include:
  • IVA (isovaleric acidemia)
  • GA-I (glutaric acidemia)
  • HMG (3-OH 3-CH3 glutaric aciduria)
  • MCD (multiple carboxylase deficiency)
  • MUT (methylmalonic acidemia due to mutase deficiency)
  • Cbl A,B (methylmalonic acidemia)
  • 3MCC (3-methylcrotonyl-CoA carboxylase deficiency)
  • PROP (propionic acidemia)
  • BKT (beta-ketothiolase deficiency)
• Fatty acid oxidation disorders - These disorders are characterized by inherited defects of enzymes needed to convert fat into energy. Without treatment, the brain (Read about "The Brain") and many organs can be affected. These conditions include:
  • 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)
• Hemoglobinopathies - These disorders result in anemia and many other health problems. They include:
  • Hb SS (sickle cell anemia) (Read about "Sickle Cell Disease")
  • Hb S/Th (hemoglobin S/beta-thalassemia) (Read about "Anemia")
  • Hb S/C (hemoglobin S/C disease)
• Other - The following conditions vary in severity:
  • CH (congenital hypothyroidism) (Read about "Thyroid")
  • BIOT (biotinidase deficiency) Biotinidase is the enzyme that recycles the vitamin biotin (Read about "Vitamins & Minerals")
  • CAH (congenital adrenal hyperplasia due to 21-hydroxylase deficiency) (see above)
  • GALT (classical galactosemia) (see above)
  • HEAR (hearing loss) (Read about "Hearing Loss")
  • CF (cystic fibrosis) (Read about "Cystic Fibrosis")

MOD says some of the tests may need to be done more than once.

Related Information:

    Newborn Concerns

    Baby and Young Child Care