News and Events

Alabama Begins Screening for Pompe and MPS-I

The Alabama Department of Public Health (ADPH) is excited to announce that on July 29, 2024, the Bureau of Clinical Laboratories began testing for Pompe disease and Mucopolysaccharidosis Type I (MPS I). The ADPH is partnering with the University of Alabama at Birmingham, Department of Genetics, to evaluate and confirm diagnosis for these two genetic disorders.

The addition of the two lysosomal storage disorders brings Alabama screening for 35 of 38 nationally recommended newborn screening conditions that are included in the Recommended Uniform Screening Panel. For additional information, please visit the Advisory Committee on Heritable Disorders in Newborns and Children.

Hands & Voices New Year Virtual 5K Event

Please visit the Alabama Hands & Voices site for information on the Alabama Hands & Voices Virtual 5K Event scheduled Saturday, December 28, 2024.

Alabama Newborn Screening Conferences

Presentations and materials from previous conferences are now available.

• 2023 Newborn Screening Conference
• 2017 Newborn Screening Conference
• 2015 Newborn Screening Conference
• 2011 Newborn Screening Conference - Family Perspectives

Newborn Screening: Jase's Story

In honor of the 60th anniversary of newborn screening, the Oklahoma State Department of Public Health has created the following video highlighting how newborn screening saves lives.

Take a Virtual Laboratory Tour

Alabama Begins Screening Newborns for Two Additional Genetic Disorders

The Alabama Department of Public Health (ADPH) is excited to announce that on March 13 newborn screening began for two additional treatable genetic disorders. Newborn screening can alert healthcare providers to the potential for a condition that is typically not apparent at birth. With a simple blood screen and treatment, most affected babies have the opportunity to avoid death and disability and grow up healthy and develop normally.

The new disorders added to Alabama's newborn screening panel are described as follows:

X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder caused by a change in a single gene that affects males. X-ALD happens when certain fats cannot be broken down in the body. The fats build up and cause health problems including damage to the nervous system and adrenal glands. Possible treatments for X-ALD include supportive therapies (such as physical therapy), steroid treatment, and stem cell transplant.

Adenosine Deaminase Deficiency for Severe Combined Immunodeficiency (ADA-SCID) is an inherited disorder that damages the immune system. Individuals with ADA-SCID lack all immune protection from bacteria, viruses, and fungi. It can be deadly in childhood because of severe recurrent infections. Gene therapy, bone marrow transplantation, or enzyme replacement therapy may be effective for treating ADA-SCID if started early.

Close coordination is needed for newborn screening follow-up. For these two conditions, the ADPH is partnering with the University of Alabama at Birmingham to evaluate and confirm the diagnosis, and ADPH provides information to healthcare providers and families for appropriate treatment.

The ADPH Bureau of Clinical Laboratories is the sole provider of blood analysis of newborn screening in Alabama. The Alabama Newborn Screening Program identifies approximately 200 babies each year with a metabolic, endocrine, hematological, or other congenital disorder. These babies usually look and act healthy at birth.

For additional information, please visit the Advisory Committee on Heritable Disorders in Newborns and Children.

Alabama Hospitals Recognized

Congratulations to the following hospitals for their outstanding effort in newborn screening specimen collection. They had 6% or less unsatisfactory newborn screening specimens during the period shown below. Their efforts set the gold standard for other facilities participating in newborn screening across the state.

Calendar Year 2023 Top Specimen Quality Birthing Hospitals

1. Ascension St. Vincent's Birmingham
2. Huntsville Hospital
3. Russell Medical Center
4. UAB Hospital
5. Athens Limestone Hospital
6. Grandview Medical Center
7. North Baldwin Infirmary
8. D.W. McMillan Memorial Hospital
9. Northport Medical Center
10. Medical Center Enterprise
11. Northeast Alabama Regional Medical Center

Newborn Screening Mobile Applications Available

Several free mobile applications are available for newborn screening providers and parents. One app available for medical providers is through the American College of Medical Genetics (ACMG). This app allows users to access ACT Sheets, which provide short-term actions a healthcare provider should follow in communicating with the family and determining the appropriate steps in the follow-up of an infant with a positive newborn screening result.

Family Highlight: Newborn Screening Saved My Baby's Life

First-time parents Kyle and Leslie Ethridge had an uneventful pregnancy and birth of their first child Grayson in December 2012. Grayson was evaluated by his pediatrician after delivery, and the new parents were told everything was fine. The night before they were scheduled to leave the hospital the nurse took Grayson for routine vital signs and also performed the pulse oximetry screen, which revealed a 97% oxygen saturation in his right hand and an 87% oxygen saturation in his foot.

Grayson was quickly transferred to Baptist Medical Center South and then flown to Birmingham for open heart surgery. He was diagnosed with ventricular/atrial septal defect and an interrupted aortic arch. Grayson sees a pediatric cardiologist on a regular basis and has had superb news every visit. According to Mrs. Ethridge, "Family, friends, and faith kept us sane during this trial. We have come out stronger and are very proactive in raising awareness for pulse ox screening to detect congenital heart defects. Newborn screening saved my baby's life."