Newborn Screening

Newborn screening is a half-century old, state-mandated public health activity aimed at early identification of babies affected with certain genetic, metabolic and congenital disorders. Screening, in Illinois, began in 1965 with testing for PKU (phenylketonuria, a metabolic disorder) and now encompasses screenings prior to discharge from a hospital or birthing center for more than 40 disorders, including newborn hearing (2002) and critical congenital heart disease (2013). Newborn screening is recognized as one of the most successful public health accomplishments, and was the first population-based genetic screening program to become an integral component of public health practice. Early detection, diagnosis and treatment of these conditions can prevent death or disability and enable children to reach their full potential. Each year in Illinois, more than 700 babies are diagnosed through newborn screening either by using a few drops of blood from the newborn’s heel or through special equipment to detect hearing loss or critical congenital heart disease.

What is the newborn screening program?

The Illinois Department of Public Health Newborn Screening Program consists of screening and follow-up for disorders identified through testing a dried blood spot, hearing screening and pulse oximetry screening. 

Why is newborn screening important?

Newborn Screening is typically performed at 24-48 hours of life in order to detect conditions or disorders in newborns soon after birth.  These tests can determine if a newborn has a condition or disease for which early treatment can help improve his/her health outcome. 

What conditions are included on the newborn screening panel?

The Illinois newborn screening panel currently includes the following: amino and urea cycle disorders, biotinidase deficiency, congenital adrenal hyperplasia, congenital hypothyroidism, cystic fibrosis, fatty acid oxidation disorders, galactosemia, lysosomal storage disorders, organic acid disorders, phenylketonuria, severe combined immune deficiency, sickle cell disease, hearing loss and critical congenital heart disease.