The Texas Department of State Health Services (DSHS) has expanded its newborn screening panel by adding four lysosomal disease tests, bringing the total number of conditions screened for in Texas to 59. The addition was made in August and means that each baby born in the state is now tested twice for these conditions, resulting in about 800,000 specimens processed annually at the Texas Newborn Screening Laboratory.
Hearing loss and critical congenital heart disease continue to be additional point-of-service tests, typically performed by birthing facilities.
“Time is of the essence for many of these disorders, and immediate action and treatment may help prevent serious health complications,” said DSHS Commissioner Jennifer A. Shuford, MD, MPH. “Newborn screening plays a vital role in protecting these most vulnerable Texans by identifying early any potential medical conditions.”
Lysosomal diseases are rare genetic disorders caused by a lack of certain enzymes or substances needed for enzyme function. Without these enzymes, harmful materials can accumulate in cells and organs. Early detection through screening allows for treatment that can manage symptoms and reduce organ and tissue damage.
The newly added lysosomal diseases include Pompe Disease, Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II), and Infantile Krabbe Disease (KD). Pompe Disease can cause muscle problems and cardiac issues beginning in infancy; its incidence rate is about 1 to 2.5 per 100,000 births in Texas. Both types of MPS can lead to severe health problems affecting multiple organs with an incidence rate of about 1 per 100,000 births each. Infantile KD typically presents within the first year of life with neurological decline; it also occurs at a rate of about 1 per 100,000 births.
To implement this expansion, DSHS used CDC grant funding as well as resources from the Newborn Screening Preservation Account established by the legislature in 2019. The program made laboratory modifications, installed new instruments, developed and validated new tests and algorithms for diagnosis and follow-up care, updated information management systems, and hired additional staff.
Newborn screening requires a heel stick blood sample collected between 24 to 48 hours after birth and again at seven to fourteen days old. If results fall outside expected ranges, follow-up begins immediately with healthcare providers.
This year’s legislative session allowed DSHS to use federal funds for building new laboratory space that will eventually support additional testing such as Duchenne Muscular Dystrophy screening.
Since its inception 60 years ago with phenylketonuria testing—a leading cause of intellectual disability at the time—Texas’ newborn screening program now identifies around 1,000 infants annually with life-threatening disorders.
