Newborn Screening

Alabama Newborn Screening LogoThe Alabama Newborn Screening Program ensures that state laws, rules, and regulations mandating newborn screening are followed. The program establishes protocol to ensure early identification and follow-up of infants affected with certain genetic or metabolic conditions. Early diagnosis reduces morbidity, premature death, intellectual disability, and other developmental disabilities. The program works in partnership with pediatric specialists throughout the state to ensure all babies identified with abnormal results receive appropriate follow-up.

The program also seeks to expand relationships with other health professionals in the state, including hospitals and pediatricians, to enhance existing services and assure objectives are met. Additionally, there are seven Community-Based Sickle Cell Organizations that provide counseling and follow up for children identified with sickle cell disease or sickle cell trait, as well as one certified Cystic Fibrosis (CF) Care Center in Birmingham that provides CF care.

The Alabama Early Hearing Detection and Invervention (EHDI) Program collaborates with the National Center for Hearing Assessment and Management (NCHAM) to ensure that all infants with hearing loss are identified as early as possible and provided with timely and appropriate audiological, edcuational, and medical intervention. In addition, the program collaborates with the Alabama Early Intervention System (AEIS) to ensure all infants with hearing loss are identified by three months of age and enrolled in AEIS before six months of age.

The Alabama Bureau of Clinical Laboratories (BCL) is the sole provider for blood analysis of newborn screening in Alabama. The BCL screens approximately 60,000 babies each year, and approximately 150,000 specimens are sent to the lab each year for testing. The BCL also provides filter paper for screening to medical providers.

The Alabama Newborn Screening Program has an active advisory board which consists of professionals and citizens knowledgeable in the area of newborn screening. The Alabama Newborn Screening Advisory Committee provides advice to the Alabama Department of Public Health on issues relative to newborn screening.

The History of Newborn Screening

The first test of newborn screening was developed in 1963 by Dr. Robert Guthrie to detect phenylketonuria, commonly referred to as PKU. It is a serious metabolic disorder in which the body is unable to metabolize certain amino acids and can lead to permanent intellectual disabilty if not detected and treated early. Before the inception of newborn screening, children with PKU were often institutionalized due to the severity of developmental disability. Newborn screening has continued to expand over the years and currently includes more than thirty disorders. In the early 2000s, the introduction of the sophisticated tandem mass spectrometry device allowed for multiple newborn screening tests to be performed simultaneously resulting in quick, accurate, and cost effective screening.

In Alabama, screening for PKU began in 1965 with the addition of congenital hypothyroidism in 1978, hemoglobinopathies (sickle cell) in 1987, galactosemia in 1992, congenital adrenal hyperplasia in 1994, and other metabolic disorders detected through tandem mass in 2004. In 2008, Alabama began screening for cystic fibrosis and officially added universal newborn hearing screening to its panel of disorders even though most facilities had begun voluntarily screening in 2001. Most recently, Alabama added screening for critical congenital heart disease. It is anticipated that by the end of 2018, we will be screening for 31 primary conditions with the addition of severe combined immunodeficiency.

The Alabama Newborn Screening Program identifies 150-200 babies each year with a metabolic, endocrine, hematological, or other congenital disorder. These babies usually look and act healthy at birth. Most affected babies have the opportunity to grow up healthy and develop normally through a simple blood screen that saves babies from death and disability.


Page last updated: February 21, 2018