The Texas Department of State Health Services (DSHS) has expanded its newborn screening panel by adding four lysosomal disease tests in August. With this addition, the number of conditions screened for every baby born in Texas has increased to 59. Each newborn is tested twice, resulting in about 800,000 specimens processed annually at the Texas Newborn Screening Laboratory.
In addition to these laboratory screenings, hearing loss and critical congenital heart disease are also tested at the point of service, usually by the birthing facility.
“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 result from missing or malfunctioning enzymes needed to break down certain substances in the body. 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). The incidence rates for each are about 1 per 100,000 births—translating to roughly four cases annually per condition in Texas—with Pompe Disease ranging from four to ten cases each year.
Funding for this expansion came from a CDC grant and the Newborn Screening Preservation Account established by the state legislature in 2019. To implement the new screenings, DSHS modified laboratory space and systems, installed new instruments, developed and validated tests, created algorithms for follow-up diagnostics and treatment, updated its Laboratory Information Management System to support abnormal screen identification, and hired additional staff for testing and care coordination.
Newborn screening requires a heel stick blood sample collected between 24 to 48 hours after birth with a second sample taken at seven to fourteen days old. If results fall outside expected ranges, the NBS program immediately begins follow-up with healthcare providers.
This year, legislative approval allows DSHS to use federal funds for building new laboratory space that will eventually support additional newborn screening tests such as those for Duchenne Muscular Dystrophy.
Through its screening program—which began 60 years ago with phenylketonuria testing—Texas identifies about 1,000 newborns each year with life-threatening disorders.
