What Is Newborn Screening? Part I

By: Anna Eames and Rachael Salley

The field of genetic screening and testing has come a long way in the last five decades. Just a few generations ago, new parents had no method of discovering which diseases and conditions their children may have had or been at risk for until symptoms developed. At that point, the ideal window of intervention or treatment has often already passed. Today, parents are fortunate enough to have a method of screening for rare, but serious, genetic conditions through a process called newborn screening.

How Does Newborn Screening Work?
Shortly after the birth of a baby, before he or she even leaves the hospital, a series of simple tests are performed as part of newborn screening. In all states, a few drops of blood are collected from a small heel stick, and baby’s hearing is tested to identify possible deafness or hearing loss. The blood sample will then be tested for at least 30 different genetic conditions, depending on the state in which baby was born.  In many states, there is a third; non-invasive screen that measures how much oxygen is in the baby’s blood. This test is called pulse oximetry or pulse ox and can help identify babies with certain heart conditions. Once these tests are completed, baby’s part is done! If results come back as abnormal or “out of range,” the baby’s healthcare provider and/or the state newborn screening program will notify parents.

Watch these videos to learn more about the different tests used during newborn screening. 

For more information on newborn screening visit www.BabysFirstTest.org