Newborn screening identifies conditions that can affect a child's long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential.
Every state in the U.S. has a newborn screening program that screens newborns for many serious but treatable congenital diseases. Many of these conditions are detected by testing a small sample of blood taken from a newborn's heel. The conditions screened for include spinal muscular atrophy, cystic fibrosis, sickle cell disease and other hemoglobinopathies, endocrine diseases, inborn errors of metabolism, lysosomal storage diseases, severe combined immunodeficiencies, critical congential heart defects, and hearing loss. Since the symptoms of these serious conditions do not always appear at birth, early detection is lifesaving and enables children to reach their full potential.
Shortly after a baby is born, a health professional takes a few drops of blood from the baby's heel. The blood sample is sent to a state laboratory to be tested for many severe disorders. Although each state decides which disorders are included in the screening, the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends states test for a core panel of 31 congenital disorders. SCID was added to the core Recommended Uniform Screening Panel (RUSP) in 2010.
CDC works with programs in every U.S. state and in more than 80 countries to ensure that newborn screening tests are accurate. This is important for early diagnosis of infants. CDC supports state programs to implement testing for new conditions. These include recent additions to the nation's Recommended Uniform Screening Panel for newborns.
CDC develops and improves newborn screening tests and provides technical assistance for both biochemical and molecular laboratory testing to detect rare diseases. CDC partners with the Association of Public Health Laboratories to provide on-site assessment visits (Molecular Assessment Program - MAP) to state newborn screening laboratories and to host yearly trainings on newborn screening methods.