Grant Expands Georgia Newborn Screening

December 13, 2013

The Georgia Department of Public Health (DPH) has been awarded $600,000 to add a critical test to its Newborn Screening program. This grant will allow Georgia to test all babies born in the state for Severe Combined Immunodeficiency (SCID). Georgia is one of only three states to receive this grant from the Centers for Disease Control and Prevention (CDC).

Blood samples from a simple heel stick allow 
DPH to screen Georgia newborns for dozens 
of genetic diseases.

Each year, two to three Georgia infants are born with SCID, which knocks out the body’s immune system and makes it unable to fight infections. The condition is also known as “bubble boy disease,” named for a Texas boy who lived most of his 12 years of life in a germ-free plastic bubble.

Because children with SCID cannot fight bacteria and viruses, conditions like pneumonia, meningitis, bloodstream infections or even the live viruses in routine childhood vaccines can cause very serious or even life threatening complications. If SCID is not detected, most babies with the condition die in the first two years of life.

“At birth, babies born with SCID may appear healthy, despite having severely compromised or absent immune system function,” said Arthur Hagar, Ph.D., director of chemistry and hematology at the Georgia Public Health Laboratory. “When SCID is detected via newborn screening in the first three months of life, infants frequently are cured completely and live normal lives.”

One of the most common treatments for SCID is a bone marrow transplant. The treatment aims to replenish the body’s immune system by replacing the bone marrow, the tissue that creates all blood cells, including those that make up the immune system.

The likelihood of a good outcome is greater if the transplant is done early, ideally within the first three months of life. When SCID is not diagnosed early, treatment becomes less effective and more expensive, often costing families millions of dollars.

In Georgia, newborns are already screened for 28 genetic conditions, such as PKU, sickle cell anemia and cystic fibrosis. When a baby is born, the hospital takes a blood sample from a heel stick, puts it on a special paper and sends it to DPH scientists at the Georgia Public Health Laboratory, where the sample is analyzed and any abnormalities are recorded. The results are reported to the baby's physician within two or three days. Those rapid test results allow doctors and parents to quickly determine that a child needs special care, such as eating a certain diet, to save their lives.

The CDC has called newborn screening one of the top 10 greatest public health achievements of the 21st century. In 2010 and 2011, the state of Georgia evaluated more than 246,000 infants, identified 28,157 infants at risk for a debilitating disorder and confirmed 548 infants had one of the 28 conditions.

“The newborn screening process has saved countless children from severe, debilitating, even fatal conditions like SCID,” said Brenda Fitzgerald, M.D., commissioner of the Georgia Department of Public Health. “With a simple heel stick we can give children, who might not otherwise survive, the chance to grow up and live healthy, normal lives.”

For more information on the Newborn Screening program, visit DPH’s website

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December 13, 2013

When Patrina Wells was born in 1993, her blood was screened for dozens of genetic diseases before she left the hospital. When the results came in, the news wasn’t great.

Wells’ mother received a call from the Georgia Department of Public Health (DPH) Newborn Screening program notifying her that her baby girl had sickle cell disease. Her initial reaction was fear. Neither Wells’ mother nor father had the disease, but they were both carriers of the gene that causes it. Her mother didn’t know how the disease would affect her daughter’s life.

December 13, 2013

Orginally published Jan. 03, 2012