The blood of a two week-old infant is collected for a Phenylketonuria, or PKU, screening Dec. 12 at Eielson Air Force Base, Alaska. PJU is a recessive genetic disorder that can cause problems with brain development, which could lead to mental retardation and seizures. All infants born at Eielson are screened for PKU at their two week well baby check up appointment. (U.S Air Force photo/Staff Sgt Eric T. Sheler)
MONTGOMERY-The Alabama Department of Public Health (ADPH) is excited to announce the approval of four new conditions to the Alabama newborn screening panel. Early identification and treatment of infants affected with certain genetic or metabolic conditions can prevent premature death and reduce morbidity and intellectual and other disabilities, and Alabama law requires screening of every newborn.
The following are the conditions added:
· Spinal muscular atrophy (SMA)
· X-linked adrenoleukodystrophy (X-ALD)
· Pompe disease
· Mucopolysaccharidosis type I (MPS-I)
The State Committee of Public Health approved a rule revision to add these conditions on December 15, 2021. Finding and treating these disorders in newborns can prevent serious complications if found early. With the additions, the ADPH Bureau of Clinical Laboratories (BCL) will now screen for 35 conditions.
Effective February 14, 2022, the BCL began testing for early indicators of SMA. SMA is a rare genetic disorder that results in changes to the genes affecting nerve cells. The lack of nerve cell protein can lead to weakness and death in children without treatment.
These additions were made in accordance with the national Recommended Uniform Screening Panel (RUSP). Disorders are chosen based on evidence that supports the benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments. The RUSP establishes a standardized list of disorders supported by the Advisory Committee on Heritable Disorders in Newborns and Children and recommended by the Secretary of Health and Human Services.
The BCL anticipates testing for X-ALD, Pompe disease, and MPS-I by the end of 2022. Pompe disease and MPS-I are lysosomal storage disorders that are caused by changes in a single gene. The conditions may worsen and cause death if not treated early. Additionally, X-ALD is a rare disorder caused by a change in a single gene and can cause death during childhood without treatment.
Newborn screening can alert providers to the potential for a condition that is typically not apparent at birth. Additional evaluation and confirmatory testing are required to confirm a diagnosis and identify the right treatment.
Close coordination is needed for newborn screening follow-up. The ADPH is partnering with the University of Alabama at Birmingham to help diagnose and provide information to healthcare providers and families. Newborn screening can alert providers to the potential for a condition that is typically not apparent at birth. Additional evaluation and confirmatory testing are required to confirm a diagnosis and identify the right treatment.
The BCL is the sole provider for blood analysis of newborn screening in Alabama. 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.
For additional information please visit https://www.hrsa.gov/advisory-
Media Release/Aretha Williams, Ph.D./Rachael Montgomery/ALABAMA DEPARTMENT OF PUBLIC HEALTH
