Newborn Screening Awareness Month is observed in September to promote the benefits of newborn screening and encourage research into expanding and improving testing.
Newborn screening is the practice of testing all babies for certain conditions that can hinder their normal development. Babies with these conditions appear healthy at birth but can develop serious health problems later in infancy or childhood. Early detection and treatment can help prevent intellectual and physical disabilities and life-threatening illnesses.
Newborn screening usually begins with a blood test 24 to 48 hours after the baby is born. Newborn screening is part of standard care in the United States; parents do not need to request to have the test done. The test is performed by pricking the baby's heel to collect a few drops of blood. The blood is placed on a special piece of paper and sent to a laboratory for analysis. Within 2 to 3 weeks, the test results are sent to the baby's doctor's office or clinic.
Sometimes a repeat blood test is required, particularly if the first test was done before the baby was 24 hours old. If the results of the test are positive or abnormal, additional testing is required to confirm the result.
Newborn screening varies from state to state. All states must screen for a set of 29 disorders by law, and some states test for 50 or more. Parents can ask their doctor about expanded (supplemental) screening if they live in an area that screens for a limited number of disorders.
To encourage uniform and comprehensive newborn screening throughout the United States, the Health Resources and Services Administration (HRSA) issued a report that recommends screening for 34 specific conditions, including metabolic disorders such as phenylketonuria, hormonal disorders such as congenital hypothyroidism, and blood disorders such as sickle cell disease. The recommendations also suggest testing for hearing loss and critical congenital heart disease in newborns. The hearing test uses a soft earphone or other instrument that is placed in the baby's ear. The heart disease test uses a skin sensor to measure oxygen levels in the blood. Low oxygen levels can indicate heart problems.
In the United States, it is estimated that newborn screening detects a treatable condition in 1 in 300 babies a year, for a total of 12,500 affected babies each year. These babies are able to receive treatment for their condition before it causes major health problems.
Newborn Screening Awareness Month is a time to highlight the improvement in quality of life that newborn screening has made possible for individuals with potentially life-threatening disorders. Additionally, it is an opportunity to advance research to continue to improve available testing.