Newborn screening recommendations
All babies in the United States get newborn screening before they leave the hospital. Newborn screening looks for rare but serious and mostly treatable health disorders. Babies with these disorders often look healthy. But if the condition is not diagnosed and treated early, a baby can develop lasting physical problems or intellectual disabilities, or may even die. The RUSP is a recommendation from the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) and is not enforced by law. Each state decides what conditions they test for on their newborn screening panel. Find out what conditions your state tests for here.
Children with MPS1 cannot break down certain types of complex sugars. The build-up of these sugars interferes with the function of other proteins and causes problems in many tissues and organs. Children with MPS1 often have no signs or symptoms at birth. The age of onset of the condition, the symptoms, and the long-term outcome are variable. However, for those who are severely affected, the use of umbilical cord blood or bone marrow transplants may be beneficial. Enzyme replacement therapy (ERT) is also approved by the U.S. Food and Drug Administration for children with MPS1 who do not have central nervous system involvement, and it appears that the age at which ERT is initiated influences the outcome. Newborn screening for MPS1 will permit earlier initiation of ERT.
X-ALD is a genetic disorder that occurs mostly in boys. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is broken down. This reduces the ability of the nerves to relay information to the brain. X-ALD can cause serious and permanent disability or death. The only effective treatment is early identification by newborn screening, and stem cell therapy (bone marrow or cord blood transplantation), sometimes along with other life-saving treatments.
“For both of these conditions, the critical importance of early diagnosis and intervention means that newborn screening is a critical tool for saving lives,” said Dr. Jennifer Howse, President of the March of Dimes. “The March of Dimes will be advocating across the nation for the addition of these two conditions to newborn screening panels in every state. We urge states to take up this vitally important issue as quickly as possible to ensure that all newborns can benefit from these potentially life-saving tests.”