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Overview of Newborn Screening for Birth Defects

What is newborn screening?

"State newborn screening" refers to a test performed on every baby born in every state of the country within the first few days of life, to detect serious, life-threatening diseases. State laws require that babies be tested between 2 and 7 days of age, even if the baby seems healthy and has no symptoms of health problems.

How and why is newborn screening performed?

Testing is usually done from a few drops of blood taken from the baby's heel and spotted onto a strip of paper called "filter paper." The filter paper is sent to a laboratory for analysis to determine the presence of certain recessive genetic diseases. Recessive diseases usually occur when healthy parents who unknowingly carry a gene for a recessive disorder, pass the gene to their baby at the same time. The baby inherits two copies of the recessive gene and, therefore, is affected with the condition. The specific diseases tested for in the newborn period are often treatable by special diets and/or medications, increasing the baby's chance for a normal life. It is important to detect these diseases as soon as possible to prevent death, mental retardation, and other disabilities.

For those conditions where a special diet is required, such as phenylketonuria (PKU) and galactosemia, a pediatric metabolic specialist and nutritionist are needed to educate parents regarding foods that are appropriate. Parents need to also be educated regarding monitoring the levels of certain compounds in the blood and urine to insure that the infant is not harmed by the disease.

What diseases are newborns screened for?

What diseases are screened for depends on the state where you live. In most states, testing is done for phenylketonuria (PKU), hypothyroidism, galactosemia, and sickle cell anemia (SC)/other hemoglobin disorders.

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Online Resources of Medical Genetics

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