Illinois newborn screening is mandatory for every baby born in the state and checks for more than 50 genetic, metabolic, and congenital disorders before the newborn leaves the hospital or birthing center. The program, run by the Illinois Department of Public Health (IDPH) under the Newborn Metabolic Screening Act, combines a blood spot panel, a hearing test, and a pulse oximetry check for critical heart defects. Parents can decline only on religious grounds, and only in writing.1Illinois Department of Public Health. Newborn Screening
What the Screening Covers
Illinois screens for disorders in several broad categories: amino acid and urea cycle disorders, fatty acid oxidation disorders, organic acid disorders, congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, biotinidase deficiency, cystic fibrosis, sickle cell disease, severe combined immune deficiency, spinal muscular atrophy, adrenoleukodystrophy, and lysosomal storage disorders, among others. Alongside the blood spot panel, the program includes newborn hearing screening and critical congenital heart disease screening by pulse oximetry.1Illinois Department of Public Health. Newborn Screening
The IDPH has statutory authority to update the panel as medical science advances, and the Act also requires an educational program so parents understand the conditions being screened for and what early detection can prevent.2eLaws. 410 ILCS 240 – Newborn Metabolic Screening Act
When the Blood Sample Is Taken
Administrative rules require that every newborn have a blood spot sample collected as soon as possible after 24 hours of age. If the baby is being discharged before that 24-hour mark, the specimen is collected before discharge rather than skipped.3Illinois General Assembly. 77 Ill. Adm. Code 661.200 – Collection and Submission of Specimens The 24-hour threshold exists because some metabolic markers are unreliable when tested earlier.
Providers collect the sample, typically from the baby’s heel, onto a filter paper card supplied by the Department. Every specimen must be submitted to the nearest IDPH-designated laboratory for testing.4Illinois General Assembly. 410 ILCS 240 – Newborn Metabolic Screening Act
The Pulse Oximetry Heart Screen
The critical congenital heart disease (CCHD) screen uses a painless sensor placed on the baby’s hand and foot to measure blood oxygen levels. Under IDPH guidelines, this screening happens after 24 hours of age or before discharge, whichever comes first.5Illinois Department of Public Health. Critical Congenital Heart Disease Screening Guidelines
Results fall into three categories:
- Pass: oxygen saturation above 95% in both the right hand and foot, with less than a 3% difference between the two readings.
- Indeterminate: oxygen saturation between 90% and 94%, or a difference greater than 3% between the right hand and foot. The screen must be repeated in one hour.
- Fail: oxygen saturation below 90% in either the right hand or foot, triggering immediate follow-up.
If the first screen is indeterminate, the provider repeats it an hour later. A second indeterminate result triggers a third screen one hour after that. On the third screen, any reading still in the 90–94% range or with more than a 3% difference is treated as a fail.5Illinois Department of Public Health. Critical Congenital Heart Disease Screening Guidelines A failed screen does not mean the baby has a heart defect; it means the baby needs a prompt diagnostic echocardiogram or cardiac evaluation.
Home and Out-of-Hospital Births
The screening requirement covers every Illinois newborn, not just hospital births. For a home birth attended by a licensed certified professional midwife, the midwife must offer to obtain and submit a blood sample for metabolic screening, and must either offer a newborn hearing screening or refer the parents to a facility with a hearing screening program within one week of delivery.6Illinois General Assembly. 225 ILCS 64 – Licensed Certified Professional Midwife Practice Act
If the birth happens outside a hospital without a licensed midwife, the parents and the first healthcare provider to see the baby are responsible for arranging screening. Parents planning an unattended birth should line up specimen collection through their pediatrician right away, because both accuracy and the treatment window depend on timing.
The Religious Exemption
Screening is mandatory, with one narrow exception. A parent or guardian may refuse the tests on the grounds that screening conflicts with their religious tenets and practices.7Illinois General Assembly. 410 ILCS 240/3 Illinois does not offer a philosophical or personal-belief exemption. The objection must be religious.
To use the exemption, the parent or guardian must give a written statement of the objection to the physician or other person responsible for the tests, and the facility must keep that written refusal in the newborn’s medical record.8Cornell Law Institute. Ill. Admin. Code tit. 77, 661.50 – Exemption A verbal refusal does not satisfy the rules.
If a Result Comes Back Abnormal or Unsatisfactory
An abnormal screen is not a diagnosis. It signals that the baby needs confirmatory diagnostic testing, and the IDPH coordinates follow-up between the state laboratory and the submitting provider.
Repeat collection is required in three situations: when initial results are borderline abnormal, when the specimen is declared unsatisfactory because of a collection or handling problem, and when the specimen is invalid due to late submission or incomplete information. Unsatisfactory specimens are reported back to the submitting physician or facility by letter, and the Department expects immediate recollection. The physician of record is responsible for obtaining the repeat sample or making sure the baby’s primary care provider knows a retest is needed.9Illinois Department of Public Health. Illinois Newborn Screening Practitioner’s Manual
The most common breakdown happens after discharge, when a family has to be brought back in for another heel stick. If you get a call about a retest, treat it as time-sensitive.
How Long the State Keeps the Blood Spot
After testing, the state laboratory holds onto blood spot specimens for a set period that depends on results. Specimens with normal results are retained for a minimum of two months and a maximum of four months. Specimens with abnormal results are retained for a minimum of six years.10Cornell Law Institute. Ill. Admin. Code tit. 77, 661.220 – Retention of Specimens The longer window for abnormal results preserves the original sample in case confirmatory testing or further analysis is needed.
What Screening Costs
The Act sets a statutory base fee of $118 per specimen, in effect since July 2015. The Department has authority to develop a reasonable fee structure and levy additional fees on top of the base to cover the cost of testing and follow-up for infants with abnormal results, with any additional fee imposed no sooner than six months before testing begins for a newly added disorder.4Illinois General Assembly. 410 ILCS 240 – Newborn Metabolic Screening Act In most cases the charge is bundled into hospital delivery billing and submitted to insurance. Check with your insurer or the hospital’s billing office if you have questions about coverage.
Penalties When Screening Is Skipped
A violation of the mandatory submission provisions is classified as a petty offense.2eLaws. 410 ILCS 240 – Newborn Metabolic Screening Act Under Illinois law, a petty offense carries no authorized prison sentence, so the penalty is a fine.11Illinois General Assembly. 730 ILCS 5 – Unified Code of Corrections The Act itself does not authorize license suspension or revocation for a provider who fails to screen, though repeated noncompliance can still draw scrutiny from the IDPH or professional licensing boards through separate disciplinary channels.