The Texas Department of State Health Services (DSHS) has expanded its newborn screening panel to include four additional lysosomal disease tests, increasing the total number of conditions screened for in Texas newborns to 59. This change was implemented in August, and now every baby born in Texas is screened twice, resulting in approximately 800,000 specimens tested each year at the Texas Newborn Screening Laboratory.
Newborn screening is conducted through a heel stick blood sample collected from infants between 24 and 48 hours after birth, with a second sample taken when the baby is between seven and fourteen days old. If any test result falls outside the expected range, the Newborn Screening program’s team initiates immediate follow-up with a healthcare provider.
“Hearing loss and critical congenital heart disease are additional point of service tests, typically conducted 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 can cause toxic materials to build up in cells and organs due to missing or malfunctioning enzymes. Early detection allows for treatments that can manage symptoms and reduce damage to organs and tissues.
The new lysosomal diseases added to the panel include Pompe Disease (incidence rate: about 4-10 cases annually), Mucopolysaccharidosis Type I (MPS I) (about 4 cases annually), Mucopolysaccharidosis Type II (MPS II) (about 4 cases annually), and Infantile Krabbe Disease (KD) (about 4 cases annually). These diseases can lead to severe health problems or early death if not identified quickly.
To implement this expansion, DSHS used grant funding from the Centers for Disease Control and Prevention as well as resources from the Newborn Screening Preservation Account established by state lawmakers in 2019. The department made laboratory modifications, installed new instruments, developed testing protocols and algorithms for diagnosis and follow-up care, updated its Laboratory Information Management System to flag abnormal results for further action, and hired additional staff for both lab operations and clinical coordination.
This year, state legislators authorized DSHS to use federal funds to construct new laboratory space that will eventually support further newborn screenings such as those for Duchenne Muscular Dystrophy.
Texas began its newborn screening program six decades ago with phenylketonuria testing. Currently about 1,000 babies are diagnosed each year through these screenings with life-threatening but treatable disorders.
