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CDC’s Newborn Screening Laboratory plays an important role in helping babies get off to a good start in their lives.
Every year, millions of babies in the United States and around the world are screened for diseases that can affect their long-term health. Shortly after a baby is born, a health professional takes a few drops of blood from the baby’s heel. The sample is blotted onto special filter paper, then sent to a newborn screening laboratory to screen for genetic, metabolic, and endocrine conditions that can affect their health or survival.
Newborn screening laboratories around the world depend on materials known as dried blood spot quality assurance samples to provide an external check on their work. The samples help them identify real biochemical or molecular markers of newborn screening disorders.
CDC has the world’s only laboratory that helps ensure the quality and accuracy of newborn screening test results. Our scientists create dried blood spots to resemble the sample types that are tested by newborn screening laboratories. The labs use the dried blood spots for comparison to make sure their tests are accurate.
“We make about a million dried blood spots every year,” explains Joanne Mei, PhD, who leads CDC’s Newborn Screening Quality Assurance Program. “This work starts in the early morning, with people preparing the filter paper cards. We lay the cards out on a rack, and a robot spots the blood onto the cards to dry overnight. We add different biochemical markers or include cells from patient samples with specific molecular markers that are positive for a certain disease, depending on what newborn screening disease we’re trying to mimic. The goal is to have normal and abnormal dried blood spots as reference materials to help labs test their ability to spot any abnormal specimens they receive from newborn babies.”
CDC packs and ships the dried blood spot reference cards to labs across the United States and 88 countries. Thanks to the rigorous quality assurance process, parents and doctors can trust the results of newborn screening tests to help detect babies at higher risk for serious conditions.
Many of the conditions are treatable. These range from Spinal Muscular Atrophy, cystic fibrosis, and sickle cell disease to endocrine diseases, multiple inborn errors of metabolism, and lysosomal storage diseases. Early and accurate testing allows babies to be diagnosed and treated right away.
Newborn screening identifies conditions that can affect a child’s long-term health and survival.