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What disorders are newborns screened for in the United States?

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The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends that every newborn screening program in the United States include a uniform screening panel of 31 primary and 26 secondary conditions. This panel is called the Recommended Uniform Screening Panel (RUSP (PDF - 141 KB)).

In addition to making recommendations on newborn screening to the Secretary, Department of Health and Human Services, SACHDNC reviews evidence for the inclusion of new conditions in the screening panel and advises the Secretary on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines, and standards.

  • A complete list of the conditions screened for in each state can be found at Baby’s First Test External Web Site Policy.

What are some examples of the benefits of newborn screening?

Many conditions included today in newborn screening no longer cause serious impairment or illness if treated properly after their early identification and diagnosis—but they once did. The three examples that follow are conditions that cause very serious developmental and intellectual disabilities, or death, if they are not detected and treated early enough to prevent damage from the beginning. With the ability to test for these conditions soon after birth and to start treatment as soon as they are detected, babies who not very long ago might have died in infancy or early childhood, or needed specialized care, can grow to healthy adulthood.

Phenylketonuria (PKU)

PKU (pronounced fee-nill-key-toe-NURR-ee-uh) is a metabolic disorder that is detected by newborn screening. In PKU, the body cannot digest or process one of the building blocks of proteins, an amino acid called phenylalanine (pronounced fen-l-AL-uh-neen), or Phe (pronounced fee). Phe is found naturally in many foods, especially high-protein foods.

PKU was the first condition for which a screening test was developed and the first condition for which widespread newborn testing was implemented in the 1960s.

If PKU is left untreated, the Phe builds up in the infant’s body and brain. By 3 to 6 months of age, infants with untreated PKU begin to show symptoms of intellectual and developmental disabilities (IDDs). These disabilities can become severe if Phe remains at high levels.

Fortunately, PKU is treatable. The treatment consists of a diet containing little or no Phe and higher levels of other amino acids. If children with the condition are placed on this diet at birth, they grow normally and usually show no symptoms or health problems. NICHD-sponsored research has shown that people with PKU should stay on the restricted diet as they enter adulthood and in fact throughout their lives. This is especially important for women of childbearing age who wish to or who might become pregnant.

Before newborn screening programs could detect PKU in the first few hours after birth, PKU was one of the leading causes of IDD in the United States. Today, as a result of newborn screening programs that allow for almost immediate treatment of the condition, PKU has been virtually eliminated as a cause of IDD in this country.

Galactosemia

Another metabolic disorder included in newborn screening is galactosemia (pronounced guh-lak-toe-SEE-me-uh), which means being unable to use galactose (pronounced guh-LAK-tohs). Galactose is one of two simple sugars that make up lactose, the sugar in milk. People with galactosemia cannot use any milk or milk products.

If infants with galactosemia consume milk or milk products (human or animal) they will develop damage to their liver, brain, kidneys, and eyes from substances that build up in their systems. Untreated infants with galactosemia can die of a serious blood infection or of liver failure. Some survive but have intellectual disabilities and other damage to the brain and nervous system. A milder form of galactosemia still needs treatment. Children who are not treated may develop early cataracts, an unsteady gait, and delays in learning, talking, and growth.

The treatment for galactosemia is not to consume any milk or milk products and to avoid other foods that contain this sugar. If this disease is diagnosed very early and the infant is placed on a rigorous galactose-free diet, she or he may live a relatively normal life, although mild intellectual disability may still develop. If not placed on a galactose-free diet immediately, an infant will develop symptoms in the first few days of life.

Before it could be detected either before birth or through a newborn screening program, galactosemia was a frequent cause of IDD or early death. At present, this inherited disease occurs in about 1 in every 50,000 babies born in the United States.1

Severe Combined Immune Deficiency (SCID)

One of the newest additions to the newborn screening panel is an inherited condition that makes a child’s body unable to fight off infections, called "severe combined immune deficiency" (SCID External Web Site Policy). This condition is also known as "bubble boy syndrome." In infants born with this condition, certain portions of the immune system do not work properly. If untreated, children with SCID rarely live past the age of two years. However, when SCID is identified and treated early, children can live longer, healthier lives.

SCID is rare, with best estimates that between 40 and 100 infants are diagnosed each year in the United States. Because SCID is a newcomer to the newborn screening panel and not all states yet screen for it, infants with the condition might be dying of infections without being diagnosed.

Infants should be evaluated for SCID and other types of immune system problems if they have:

  • A high number of infections
  • Infections that do not improve with antibiotic treatment for two or more months
  • Diarrhea
  • Poor weight gain or growth (called "failure to thrive")
  • Fungal infections in the mouth (called "thrush") that will not go away

An infant with any of these warning signs should be tested for SCID right away.


  1. Maternal and Child Health Bureau, Health Resources and Service Administration, Genetic Services Branch. (n.d.). Genetic Fact Sheets for Parents: Galactosemia. Retrieved May 14, 2012, from http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html External Web Site Policy [top]

Last Updated Date: 11/30/2012
Last Reviewed Date: 04/12/2013
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