Genetics and Newborn Screening

Newborn Screening

Information for Physicians and Other Health Care Professionals

What is newborn screening?

Newborn screening involves laboratory testing of all newborns for certain genetic/metabolic or endocrine disorders of body chemistry. In addition to laboratory capabilities, necessary components of a successful newborn screening program include tracking and referral of at-risk infants until further diagnostic testing is performed and long-term follow-up of children diagnosed with a disorder.

These tests should be considered screening tests only. Screening can indicate the possibility that an infant may be at risk for a disorder included in the testing panel. Additional diagnostic tests are necessary to determine if the infant with an abnormal test actually has a disorder.

What are the limitations?

Not all affected infants will be identified through screening. The accuracy of screening tests depends on various factors, including the way the specimen is collected, infant’s age at testing, birth weight, gestational age, feeding type, transfusion status, the presence of co-existing illness or medical conditions and medications. If an infant with normal screening test results has symptoms of a disorder, or medical problems associated with metabolic disorders, further diagnostic tests are necessary, regardless of the baby’s newborn screening results. While newborn screening has proven to be reliable in the early detection of some metabolic, endocrine and hemoglobin disorders, as with any laboratory tests, false positive and false negative results are possible.

What disorders are included?

Illinois, with the advice of the Genetic and Metabolic Diseases Advisory Committee , determines which disorders will be included in its newborn screening test profile. Disorders are included in screening if a condition is relatively common, testing is simple and low cost, and effective treatment or intervention is available.

While testing may vary among states, screening for phenylketonuria (PKU ), hypothyroidism and several other conditions occurs in each state. Infants coming to Illinois from other states may not have been screened for the same panel of screening tests offered by the Illinois Newborn Screening Program.

In Illinois, the newborn screening test panel includes biotinidase deficiency, congenital adrenal hyperplasia, congenital hypothyroidism, cystic fibrosis, galactosemia, phenylketonuria, sickle cell disease and additional amino acid, urea cycle, fatty acid oxidation and organic acid disorders. See the Newborn Screening Panel and Expanded Newborn Screening fact sheets for more information about these disorders and tandem mass spectrometry testing.

When should the test be done?

For most infants, the newborn screening sample should be collected on a filter paper card supplied by Illinois Department of Public Health as soon as possible after the first 24 hours of life, or prior to early hospital discharge or transfer. Whenever possible, specimens should be collected prior to blood transfusion. For infants not born in a hospital setting, arrangements should be made by the medical provider or parents to have a dried blood spot specimen collected on a Department filter paper card as soon as possible after 24 hours of age.

Since many of the disorders included in newborn screening can cause an affected infant to become critically ill within the first few days of life, it is very important to make sure that a sample is collected and promptly submitted to the Department laboratory.

If it is determined that, for some reason, an older infant did not receive a screening test in the newborn period, arrangements should be made to ensure that such testing is completed. In Illinois, newborn screening of all infants is mandated; the only allowable exemption is on religious grounds

How should the sample be submitted?

It is critical that the newborn screening sample be submitted as soon as possible after collection to the Department’s Newborn Screening Laboratory at 2121 W. Taylor St., Chicago, IL 60612. Filter paper cards should not be held after collection and submitted in batches. All birthing hospitals are encouraged to use the Department designated courier service. Whenever possible, all other health care providers should use a courier service providing next business day delivery to the Department’s Chicago laboratory to ensure prompt delivery of specimens.

If possible, all circles on the Department’s filter paper card should be filled with blood from a heel stick, and all identifying information on the requisition should be completed, especially all known names of the infant and mother, the phone number and address of the infant’s parent(s), and the physician’s name and phone number. Information including hours of age at specimen collection, birth weight, gestational age, feeding type and transfusion status and date also is very important for proper interpretation of test results.

When will I get results?

High abnormal results will be reported as soon as possible to the physician of record. This report will be made by phone, letter and fax, and will include recommendations for further testing and/or referral to a medical specialist, a fact sheet about the disorder and a list of pediatric sub- specialists.

Low level abnormal results and notification of unsatisfactory specimens will be reported by letter to the physician of record, along with recommendations for repeat testing or referral.A written report of all normal and abnormal test results for each specimen also will be sent to the submitting hospital by the Department’s Division of Laboratories. Hospitals should place the original report in the infant’s medical record and forward a copy to the baby’s primary care provider.

What if I have questions?

Please contact the Department’s Genetics/Newborn Screening program for general information or to obtain information about the courier service for birthing hospitals. Questions about laboratory testing and services should be directed to the Illinois Department of Public Health Newborn Screening Laboratory in Chicago. Specimen collection cards may be ordered from the Department’s Division of Laboratories in Springfield. Billing issues should be referred to the Department’s Accounting Services Division.

  • General Information 217-785-8101
  • Laboratory Services 312-793-4752
  • To order Newborn Screening specimen cards 217-524-6222 or 217-782-6562 or fax request to 217-558-3476
  • Billing Questions 217-524-5780
IDPH Online Home
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Illinois Department of Public Health
535 West Jefferson Street
Springfield, Illinois 62761
Phone 217-782-4977
Fax 217-782-3987
TTY 800-547-0466
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