The Texas Department of State Health Services (DSHS) has expanded its newborn screening panel to include four lysosomal diseases, increasing the total number of conditions screened for in Texas newborns to 59. The new tests were added in August. According to DSHS, each baby born in Texas is screened twice, resulting in about 800,000 specimens tested annually at the Texas Newborn Screening Laboratory.
Additional point-of-service tests for hearing loss and critical congenital heart disease are 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 that lead to a buildup of toxic substances within cells and organs due to missing or malfunctioning enzymes. Early detection through screening can help 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 and cardiac issues beginning in infancy with a high risk of death within the first year. Both types of MPS can result in multiple organ problems and may also lead to early death if not identified early. Infantile KD presents with neurological decline during the first year of life without screening or intervention.
To implement this expansion, DSHS used funding from a CDC grant as well as resources from the Newborn Screening Preservation Account established by state lawmakers in 2019. The program made several changes including modifying laboratory space, installing new instruments, developing and validating tests, updating information management systems with screening algorithms for follow-up care, and hiring additional staff for testing and care coordination.
Samples for newborn screening are collected via heel stick blood samples between 24-48 hours after birth and again at 7-14 days old. If results fall outside expected ranges, follow-up with healthcare providers begins immediately.
This year, the Texas Legislature authorized DSHS to use federal funds to build new laboratory space which will allow further expansion of newborn screenings, including future testing for Duchenne Muscular Dystrophy.
Since its inception 60 years ago with phenylketonuria testing—a leading cause of intellectual disability at the time—Texas’ newborn screening program now identifies about 1,000 infants each year with life-threatening disorders that benefit from early diagnosis.
