The State of Maryland and the Office of Genetics and People with Special Health Care Needs are dedicated to screening newborn infants for conditions that can cause serious illness, developmental delays and even death if not detected in the first few weeks of life. In 1965, Newborn Metabolic Screening using dried blood spots was started to determine if babies have a condition called Phenylketonuria or PKU for short. PKU is a metabolic disorder that causes major developmental delays if too much protein is eaten. Since 1965, over 250 babies in Maryland have been identified with a form of PKU.
Although the Newborn Metabolic Screen is still commonly called the “PKU” test, the testing has been expanded to include over 50 different conditions. These conditions include:
• Inability to break down the sugar in breast milk and most formulas
• Inability to break down different proteins
• Inability to break down different fats for energy
• Presence of abnormal red blood cells or sickle cell disease
• Abnormal thyroid function (congenital hypothyroidism)
• Abnormal adrenal glands (congenital adrenal hyperplasia)
• Cystic fibrosis
The goal of newborn metabolic screening is to identify babies who may have one of these conditions as soon as possible to help prevent problems. Babies who are born and live in the State of Maryland are screened in the hospital 24-48 hours after birth and again in their pediatrician’s office at about 2 weeks of age.
To learn more about newborn metabolic screening, click on the links below.