MDH increases identifiable conditions in panel to 61

News Release, Maryland Department of Health

Baltimore, MD– The Maryland Department of Health (MDH) announced today that newborns will be screened for four additional conditions under Maryland’s newborn screening program. Newborn screening helps identify certain rare conditions so treatment can start immediately.

The additional disorders that will be included starting today are Pompe disease, Fabry disease, Mucopolysaccharidosis type I (MPS I) and Spinal Muscular Atrophy(SMA), bringing the total number of conditions in the panel to 61. The addition of these tests puts Maryland in the top five states in the nation for the number of screening tests available to newborns.

“We’re thrilled to add these four conditions to the screening panel, further ensuring babies born in Maryland are as healthy as possible,” said MDH Secretary Robert R. Neall. “This screening is the fastest way to alert parents and providers to the presence of any of these conditions. I encourage all new parents to learn about and take advantage of newborn screening.” 

Newborn screening is performed by obtaining a few drops of blood from the baby’s heel. The blood sample is placed on special paper, dried and mailed to the Maryland State Laboratory, where the testing is performed. The newborn screen looks for conditions that can occur because of problems with the body’s hormones, inability to break down food correctly, certain kinds of blood disorders, and other types of inherited conditions.

“Disorders on the newborn screening panel are selected because there is treatment available to prevent symptoms of the medical condition or to help make the symptoms less severe,” said Fran Phillips, MDH Deputy Secretary for Public Health. “The goal is to identify babies while they are still healthy and make sure they receive specialized care as quickly as possible, if one of these disorders is detected or further testing is needed.”

While newborn screening does not diagnose conditions, it plays a crucial role in identifying babies who need further testing. Between June 2018 and May 2019, approximately 78,000 babies were screened in Maryland labs. Of those screened, 240 newborns were found to have one of the conditions included in the screening panel.

Each baby born in Maryland should get two newborn screens. The first screen is collected when the baby is just over 24 hours old. The second should be collected at the doctor’s office when the baby is around two weeks old. If the newborn screen results show anything out of the normal range, the MDH Newborn Screening Follow-Up Program will contact the baby’s doctor to provide follow up and specialized consultation to ensure each baby receives the best care.

The four disorders added to the panel (bringing the total to 61) include:

  • Pompe disease – The body is not able to break down a certain complex sugar. This sugar builds up in cells and causes damage when it accumulates in certain parts of the body, including muscles. 
  • Fabry disease – The body is not able to break down a certain fatty substance. This substance accumulates in cells and can cause damage throughout the body, including to the heart, kidneys, nervous system, and skin. 
  • Mucopolysaccharidosis type I(MPS 1) – The body is not able to break down certain large sugar molecules. These sugar molecules build up in cells and cause different organs and tissues to become enlarged. Many parts of the body can be impacted.
  • Spinal Muscular Atrophy (SMA) – There is a loss of specialized nerve cells called motor neurons in the spinal cord. These motor neurons control muscle movement. Their loss results in weakness and wasting of muscles, and can impact muscles used for breathing. 

Additional information about Maryland’s newborn screening program can be found on the Department’s website at https://health.maryland.gov/laboratories/Pages/Parents.aspx

David M. Higgins II, Publisher/Editor

David M. Higgins was born in Baltimore and grew up in Southern Maryland. He has had a passion for journalism since high school. After spending many years in the Hospitality Industry he began working in...