Many new parents know that their baby will have to undergo a newborn screening test. But do you know what the blood from that little heel prick is testing for? The goal of newborn screening is to identify babies at increased risk for certain metabolic or genetic diseases so that medical treatment can be started quickly. For the conditions included in newborn screening, identification in the newborn period is crucial because early intervention can lead to a significant reduction of illness, irreversible neurological and developmental damage, and sometimes even death. Recently the March of Dimes, following the recommendation of the Secretary of the U.S. Department of Health and Human Services added Severe Combined Immunodeficiency (SCID) as its 30th core condition to the newborn screening panel. SCID describes a rare group of inherited disorders characterized by defects in two critical immune system cells that normally help the body to fight infections. In the media, SCID is frequently referred to as “the bubble boy” disease. Experts estimate that approximately 40-100 infants are diagnosed with SCID in the US every year, although that may be an underestimate. Some researchers believe that there may be many undiagnosed infants dying of SCID-related infections every year. Infants diagnosed with SCID before they exhibit symptoms can have treatments that will significantly improve their health outcomes and potentially save their lives, such as stem cell transplants or enzyme replacement therapy.
Another newborn screening test that many of us may not even know our babies take is for hearing loss. Each year in the US 12,000 infants are born with hearing loss. Frequently, the cause is unknown. But hearing loss can go undetected for years. Infants should be screened for hearing loss no later than 1 month old. Fortunately most states do include a hearing test in their mandatory newborn screening panel, so the test takes place before the baby even leaves the hospital. The test is short and painless—in fact many babies sleep right through it! If hearing loss is detected, more tests will be conducted to determine the severity of the loss and possibly its cause. Early intervention for infants with hearing loss is very important both for communication and social development. Recently we posted about the importance of early intervention for hearing loss.
Remember though that these tests are screening tests–they are not diagnostic. If a screen comes back positive, it does not mean that your baby has that disease. But it does mean that they need to have follow-up testing done. So make sure you follow your health care provider’s recommendations.
Today, nearly all of the 4 million infants born each year in the United States undergo newborn screening. Unfortunately, not all states currently test for all 30 of the recommended disorders. Since there is currently no federal law regulating newborn screening programs, each state determines its own policies and procedures. Curious as to what newborn screening is mandated in your state? You can find out at the National Newborn Screening and Genetics Resource Center. You can also read other posts about newborn screening here and here.