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National Newborn Screening and Genetics Resource Center

Iowa Department of Public Health

Before a baby born in Iowa leaves the hospital, a simple blood test is conducted to provide important information about the baby's health that might not otherwise know.

Sara Copeland, MD, director of the Iowa Neonatal Metabolic Screening Program and a pediatrician at University of Iowa Children's Hospital, says the test is performed by pricking the baby's heel and putting a few drops of blood on a special filter paper. The paper is allowed to dry and then sent to the newborn screening laboratory at University Hygenic lab in Ankeny, Iowa, where several different tests will be performed to look for proteins and other enzyme

The medical consultants for the Iowa Neonatal Metabolic Screening Program know in about 48 hours and the baby's doctor is contacted shortly after that. Then, the doctor's office contacts the family. "It is a roundabout way of notifying the family," she says, "but preserves patient confidentiality and makes sure the community physicians know what is happening with their patients.

"The disorders tested included in the panel of tests are for more than 40 different problems that can cause increased risk of death, mental retardation, or illness. These may vary from mild to serious, but all have some form of intervention to improve the baby's health.

"Even if there is no family history of birth defects and the baby seems healthy, the baby is still tested before leaving the hospital Parents who have no family history of problems and/or who have already had healthy children can still have children with these disorders," Copland says. "In fact, most children with these disorders come from families with no previous history of the condition.

"About two percent of babies need to be retested, with the majority being babies born prematurely or on specific types of medications. Does retesting mean something is wrong? No, in fact the majority of babies with abnormal newborn screen tests will be normal on repeat," she says.

"It is very important for babies to be screened and identified early," Copeland says. "The faster the problem is found, the better off the baby will be. For instance, two of the disorders have associated mental retardation if not treated in the first week or so of life, so time is of essence. More than one in 100 babies will have some form of a disorder detected by NBS."

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