On Monday, Feb. 13, the North Carolina Department of Health and Human Services (NCDHHS) announced that babies born in the state will now get screened for two additional disorders.
This is in addition to the other disorders that babies have been checked for by the department’s Newborn Screening Program in the past.
Newborns will now be screened for Mucopolysaccharidosis Type 1 (MPS-1) and Pompe Disease. The conditions are rare, but catching them early significantly aids treatment.
MPS I is a disease that can affect several parts of the body including the brain, heart, liver, eyes and respiratory system. It can result in developmental delays and skeletal deformities, and it can impede motor skills and lead to respiratory tract infections.
Types of Pompe Disease include infantile-onset and late-onset.
Babies with the disease may display poor muscle development and muscle weakness, or have poor liver development and heart defects. It can be fatal without treatment.
Director of the State Laboratory of Public Health at NCDHHS Dr. Scott Shone, stated in a press release that the early screening will help catch medical problems in newborns early.
“Newborn screening is critical for early detection and treatment of many genetic and biochemical disorders in the first few days and weeks after birth,” he said. “Before leaving the hospital, a few drops of the baby’s blood are collected on a special filter paper card and sent to the State Laboratory to help identify babies who may be at increased risk for certain health problems as early as possible.”
In a typical year, more than 200 babies in the state are identified with genetic or biochemical disorders through screening efforts. What is found can be lifesaving in some cases.
The state’s Newborn Screening Program previously added Spinal Muscular Atrophy) in 2021 and X-Linked Adrenoleukodystrophy in 2022 to the list of disorders screened for. With this latest move, the state joins a growing number of states now screening newborns for MPS I and Pompe Disease.