Newborn conditions—genetic or nongenetic, common or obscure—can have devastating consequences if not diagnosed soon after birth. But with early detection and treatment, babies with conditions that may once have led to disability or even death can grow up to be healthy adults.
How did newborn screening begin?
Newborn screening programs began in the early 1960s when Robert Guthrie, MD, PhD, developed a test for phenylketonuria (PKU). Individuals with PKU lack an enzyme needed to process the amino acid phenylalanine. This amino acid is essential for growth, but too much phenylalanine can damage brain tissue and cause intellectual disabilities. By putting babies with PKU on a special diet immediately after birth, scientists found that the babies were able to develop without damage to their brain tissue.
Following the development of the PKU test, which showed the benefits of timely treatment, scientists developed screening tests for other conditions as well.
What conditions are screened for today?
The Secretary of the U.S. Department of Health and Human Services makes recommendations to states on which conditions to screen for at birth. The list of recommended screening tests is called the Recommended Uniform Screening Panel (RUSP). Since July 2018, the RUSP has included tests for 35 core conditions and 26 secondary conditions. Baby’s First Test provides information on which conditions are screened for in each state.
Decisions about which conditions to include in state newborn screening programs are made by state boards of health, taking into account factors such as how common a condition is, whether it’s treatable, and the costs involved. Conditions most commonly screened for include the following:
- phenylketonuria
- congenital hypothyroidism
- sickle cell disease
- galactosemia
- congenital adrenal hyperplasia
- biotinidase deficiency
- maple syrup urine disease
- homocystinuria
If there’s a family history of genetic disease, or any reason to believe that a baby may be at risk for a specific disease, additional screening options may be recommended by a health care provider.
How common is screening?
Ninety-eight percent of the 4 million babies born in the United States each year are screened.
When is screening done?
Newborn screening is usually done before newborns leave the hospital (within 24–48 hours after birth).
How is screening performed?
Testing requires a small sample of blood to be taken from the heel of a baby’s foot.
What does it mean if screening is positive?
A positive screening result isn’t a diagnosis but only indicates that further testing must be done to either confirm or rule out a diagnosis. Primary care and specialty physicians are responsible for notifying the family of positive results and for reconfirming positive results through additional testing. Physicians are also responsible for identifying appropriate management and treatment options and ensuring followup.
The following five conditions are those most commonly diagnosed as a result of screening of newborns in the United States:
- hearing loss
- congenital hypothyroidism
- cystic fibrosis
- sickle cell disease
- medium-chain acyl-CoA dehydrogenase deficiency
It’s important to remember that if a newborn does have a congenital condition, early detection and treatment will give him the best chance to thrive.
