Genetics and Newborn Screening


Printable PDF (326K)

A Baby’s First Step in Life

A Newborn Screening Guide for Parents

Why does my baby need newborn screening?

Most babies born in the United States are healthy, but there are some babies who may seem fine at birth that have a serious unseen disorder. If detected early, some of the problems, such as illness, mental retardation, poor growth or death can be prevented.

How will you test my baby?

After your baby is at least 24 hours old, a nurse from the hospital will collect a small sample of blood from your baby’s heel. If your baby goes home from the hospital sooner than 24 hours of age, or is born at home, you should make an appointment with your child’s doctor to make sure the test is done at the proper time. This screening is most accurate soon after your baby is born, so if your baby is born at home, it is important to make arrangements to have this done before your baby’s birth, or as soon as possible after your baby’s birth.

What disorders are included with newborn screening?

The Illinois newborn screening panel currently includes specific endocrine and metabolic disorders, as well as certain blood disorders. The disorders included in the panel are:

  • Amino Acid/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

More information about each of the diseases or disorders included in the screening panel can be found on the fact sheets provided on the website.

Where do I get my baby's screening results?

Results of the screening are sent to the hospital or clinic where the sample was collected. Ask your doctor any questions you may have concerning the results or the newborn screening process.

baby feet

What if my baby needs a retest?

If your child’s initial screening was unclear or abnormal the newborn screening may need to be repeated. If necessary, it is important to make sure that this test is repeated as soon as possible. Your baby’s doctor will talk with you about what steps need to be taken.

Additional Information

Illinois Department of Public Health
Genetics/Newborn Screening Program
535 West Jefferson Street, 2nd Floor
Springfield, Illinois 62761

IDPH Online Home
IDPH Online Home

Illinois Department of Public Health
535 West Jefferson Street
Springfield, Illinois 62761
Phone 217-782-4977
Fax 217-782-3987
TTY 800-547-0466
Questions or Comments