Nearly all babies will have a simple blood test to check for disorders that are not apparent immediately after delivery. Some of these disorders are genetic, metabolic, blood, or hormone-related. Each state in the United States requires screening tests, but the specific tests performed vary among the states. Some disorders are more common in some states, making these individual tests more important in those states.
A heel-prick is used to sample the baby's blood. The blood drops are collected in a small vial or on a special paper. The blood is then sent for testing. The baby's heel may have some redness at the pricked site, and some babies may have bruising, but this usually disappears in a few days.
Newborn screening tests may include:
Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. It is estimated that 1 baby in 25,000 is born with PKU in the U.S. Without treatment, PKU can cause intellectual disability. Newborn screening for PKU is required in all 50 states.
Congenital hypothyroidism. This is a condition in which the baby is born with too little thyroid hormone. Hypothyroidism is also quite common and has almost doubled in the past 20 years to approximately 1 in 2,000 births in the U.S. Untreated low thyroid hormone levels can lead to mental developmental problems and poor growth. All 50 states screen for hypothyroidism.
Galactosemia. This is an inherited disorder in which the baby is unable to metabolize galactose, a milk sugar. It is estimated to occur in about 1 baby in every 53,000 births. Without treatment (avoidance of milk), galactosemia can be life threatening. Symptoms may begin in the first two weeks of life. All states screen for galactosemia.
Sickle cell disease. This inherited disorder occurs primarily in African Americans, but may also occur in Hispanics and Native Americans. The disease causes a severe form of anemia. There are different types of the disease. The disease occurs in about one out of every 500 African American births and 1 out of every 36,000 Hispanic American births. Early diagnosis of sickle cell disease can help lower some of the risks which include severe infections, blood clots, and stroke.
Maple syrup urine disease. This is an inherited disorder that is very common in the Mennonite population. The disorder is caused by an inability of the body to properly process certain parts of protein called amino acids. The name comes from the characteristic odor of maple syrup in the baby's urine caused by the abnormal protein metabolism. If untreated, it is life threatening as early as the first two weeks of life. Even with treatment, severe disability and paralysis can occur.
Homocystinuria. This inherited disorder affects 1 in 100,000 babies and causes intellectual disability, bone disease, and blood clots. It is caused by a deficiency of an enzyme necessary to digest an amino acid called methionine.
Biotinidase deficiency. This inherited disorder is characterized by a deficiency of the biotinidase enzyme. This enzyme is important in metabolizing biotin, a B vitamin. It affects 1 in 60,000 to 75,000 babies in the U.S. and is most common in the people of European descent. Lack of the enzyme can lead to severe acid build up in the blood, organs, and body systems.
Congenital adrenal hyperplasia. Most states screen for this inherited disease of the adrenal glands. Babies born with congenital adrenal hyperplasia (CAH) cannot make enough of the hormone cortisol, which helps control energy, sugar levels, blood pressure, and how the body responds to the stress of injury or illness. The Endocrine Society estimates the incidence of CAH at 1 in about 15,000, depending on the severity of the disease. It is extremely common in a certain group of Eskimos in western Alaska. CAH may also affect the development of the genitals and the hormones of puberty.
Medium chain acyl-CoA dehydrogenase deficiency (MCAD). This disorder of fatty acid oxidation can cause sudden death in infancy and serious disabilities in survivors, such as intellectual disability. MCAD affects about 1 baby in 6,400 to 46,000, almost exclusively in people of northwestern European descent.
Hearing loss. Three in every 1,000 newborns have significant hearing loss, and nearly all states are currently testing newborns.
Other tests screen for disorders including congenital toxoplasmosis and cystic fibrosis. Some states are using a new testing technique called tandem mass spectrometry (MS/MS) which can detect more than 30 disorders using a simple blood sample, including those involving protein and fatty acid metabolism.
Most screenings cannot be performed until a baby has received at least 24 hours of breast milk or formula. Your baby may need follow-up testing if you are discharged before this time or the baby is unable to be tested before discharge. Most states mandate a second blood test to be done at 2 weeks of age.