What are newborn screening tests?

Before your baby leaves the hospital, he has some tests called newborn screening. Newborn screening checks for serious but rare conditions that your baby has at birth. Many of these health conditions can be treated if found early. Newborn screening includes blood, hearing and heart screening. Each state decides which tests are required. Ask your baby’s healthcare provider which tests your baby will have. Learn more at: marchofdimes.org/newbornscreening 

Newborn screening tests are used to look for certain genetic, metabolic, hormonal and functional disorders that have no immediate visible effects on a baby, but unless detected and treated early, can cause severe problems and in some cases death.  A screening test is a means to see if a baby is more likely than other babies to have a disorder.  In other words, newborn screen tests do not diagnose the disorder, but identify those infant who need further testing and evaluations.  There are approximately 40 disorders that can be screened with a blood test.  Currently in the United State, congenital hypothyroidism, glactosemia and phenylketonuria are screened for in all 50 states.  The addition of other screening test is regulated by the individual state.  In addition to newborn screening blood tests, a hearing screening test is recommended for all newborns.

While these newborn screen tests reveal no risk in the majority of newborns, for those who are found to have a serious condition or a hearing impairment, the early diagnosis and treatment can make a difference between healthy development and life-long disability.

Around the world, babies are tested for a wide variety of conditions that, if identified early, can be treated to decrease or eliminate problems. The testing is done with a few drops of baby blood layered onto a piece of filter paper and sent to a central laboratory for testing. Normally this blood is collected on the second or third day of life and results are available in 1-2 weeks. Many of the conditions are very rare but a few, such as cystic fibrosis, thyroid problems, phenylketonuria and sickle cell disease are more prevalent in particular populations.