TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.20 INCORPORATED AND REFERENCED MATERIALS
Section 661.20 Incorporated and Referenced Materials
a) The
following federal and State statutes and rules guidelines are referenced in
this Part:
1) Illinois Statutes:
A) Newborn
Metabolic Screening Act [410 ILCS 240]
B) Early
Hearing Detection and Intervention Act [410 ILCS 213]
C) Genetic
and Metabolic Diseases Advisory Committee Act [410 ILCS 465]
D) Nurse
Practice Act [225 ILCS 65]
E) Illinois
Speech-Language Pathology and Audiology Practice Act [225 ILCS 110]
F) Early
Intervention Services System Act [325 ILCS 20]
G) Illinois
Health Statistics Act [410 ILCS 520]
H) Medical
Studies Act [735 ILCS 5/8-2100]
2) Illinois Rules
Early
Intervention Program (89 Ill. Adm. Code 500)
Illinois
Clinical Laboratories Code (77 Ill. Adm. Code 450)
3) Federal Statutes
A) Family
Educational Rights and Privacy Act (FERPA) (20 U.S.C. 1232(g))
B) Health
Insurance Portability and Accountability Act of 1996 (HIPAA) (42 U.S.C.
1320d-2)
C) Clinical
Laboratory Improvement Amendments of 1988 (CLIA) (42 U.S.C. 263a)
D) Individuals
with Disabilities Education Act (20 U.S.C. 1400)
b) The
following federal regulation is incorporated by reference in this Part:
Privacy Rule (Standards for
Privacy of Individually Identifiable Health Information) of the Health
Insurance Portability and Accountability Act of 1996 (HIPAA) (45 CFR 164.512(a)
and (k)(6) (October 1, 2007), 45 CFR 164.506 (October 15, 2002) and 45 CFR
164.501 (October 15, 2002)).
c) The
following standards and guidelines are incorporated in this Part:
1) "Newborn
Screening for Preterm, Low Birth Weight, and Sick Newborns", available
at: Clinical and Laboratory Standards Institute (CLSI), 950 West Valley Road,
Suite 2500, Wayne, PA 19087, 2009
2) "Strategies
for Implementing Screening for Critical Congenital Heart Disease".
Pediatrics, vol. 128, Pages 1259-1267, Copyright 2011 by the AAP.
3) "Overview
of Cutoff Determinations and Risk Assessment Methods used in Dried Blood Spot
Newborn Screening − Role of Cutoffs and Other Methods of Data
Analysis", Association of Public Health Laboratories, Version Two, July
2022, available at: https://www.aphl.org/programs/newborn_screening/Documents/Cutoff-Determinations-and-Risk-Assessment-Methods.pdf#search=cutoff.
4) "Year
2019 Position Statement: Principles and Guidelines for Early Hearing Detection
and Intervention Programs", Joint Committee on Infant Hearing (JCIH), available
at: American Speech-Language-Hearing Association (ASHA), 2200 Research
Boulevard, Office 309, Rockville, MD 20850 or
https://digitalcommons.usu.edu/jehdi/vol4/iss2/1/.
d) All incorporations by reference of federal regulations and
guidelines and the standards of nationally recognized organizations refer to
the regulations, guidelines and standards on the date specified and do not
include any later amendments or editions.
 | TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.30 GENERAL PROCEDURES FOR THE NEWBORN SCREENING
Section 661.30 General Procedures for the Newborn
Screening
a) Pursuant
to the Newborn Metabolic Screening Act [410 ILCS 240], the physician in
attendance at or immediately after the birth of the newborn shall have primary
responsibility for seeing that a newborn is screened in accordance with this
Part. The physician may delegate the newborn screening to the medical care
facility administrator or to the administrator's designated representative,
such as a member of the nursery staff, the pediatrics staff, the laboratory
director, the obstetrical supervisor, or other medical care facility official.
b) A
newborn blood spot screening meeting the requirements for testing shall suffice
for all tests other than the newborn hearing screening and newborn heart
screening that are done at a medical care facility.
c) Pursuant
to the Newborn Metabolic Screening Act, if the newborn is not born in or
admitted to a hospital or when there is no primary care provider in attendance
at or immediately after the birth, the primary care provider caring for the
newborn during the first month of life shall be the individual responsible for
seeing that newborn screening is performed within thirty (30) days after birth,
unless a different time period is medically indicated. When there is no primary
care provider caring for the newborn during this period, the parents or legal
guardian are responsible. Local health authorities or the Department will
assist the parents or legal guardian in having the newborn screened. [410 ILCS
240/2(a-5)]
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.40 GENETIC AND METABOLIC DISEASES ADVISORY BOARD
Section 661.40 Genetic and Metabolic Diseases Advisory
Board
a) The
Director shall create the Genetic and Metabolic Diseases Advisory Committee to
advise the Department regarding issues relevant to newborn screenings of
metabolic diseases and other newborn non-metabolic conditions (Section 5(a)
of the Genetic and Metabolic Diseases Advisory Committee Act).
b) The
Advisory Committee shall:
1) Advise
the Department regarding issues relevant to its Genetic Program;
2) Advise
the Department regarding optimal laboratory methodologies for screening of the
targeted conditions;
3) Recommend
to the Department consultants who are qualified to diagnose a condition
detected by screening, provide management of care, and genetic counseling for
the family;
4) Monitor
the incidence of each condition for which newborn screening is done, evaluate
the effects of treatment and genetic counseling, and provide advice on
disorders to be included in newborn screening panel;
5) Advise
the Department on educational programs for professionals and the general
public; and
6) Advise
the Department on new developments and areas of interest in relation to the Department's
Genetics Program (Section 5(b) of the Genetic and Metabolic Diseases
Advisory Committee Act).
c) The
Advisory Committee shall consist of 20 members appointed by the Director.
Membership shall include physicians, geneticists, nurses, nutritionists, and
other allied health professionals, as well as patients and parents. Ex-officio
members may be appointed, but shall not have voting privileges. (Section
5(c) of the Genetic and Metabolic Diseases Advisory Committee Act).
d) The
addition of specific disorders to this Part shall be reviewed by the Advisory
Committee. The Department will consider the recommendations of the Advisory
Committee in determining whether to include an additional disorder in the
screening panel. Implementation of the Department's determination is subject to
that determination's adoption by rule.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.50 EXEMPTION
Section 661.50 Exemption
Whenever a newborn screening
test is not performed because a parent or legal guardian objects on the
grounds that such test conflicts with their religious tenets and
practices, a written statement of such objection shall be presented to the
physician or other person whose duty it is to administer and report such tests.
The medical care facility or the health care provider shall maintain
documentation of the refusal as part of the newborn's, infant's or child's
medical record.
ADMINISTRATIVE CODE TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661 NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.60 FEE ASSESSMENT AND PAYMENT
Section 661.60 Fee Assessment and Payment
a) Each institution or person submitting to the Department any
sample for newborn screening shall be assessed a fee of $411.35.
b) Monthly Statements of fee assessment shall be mailed to
facilities submitting samples for analysis.
c) Payment shall be rendered to the Department upon receipt of
the monthly statement of fee assessment.
(Source: Amended at 49 Ill. Reg. 13014, effective October 6, 2025)
|
SUBPART B: NEWBORN AND INFANT SCREENING REGISTRIES
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.100 NEWBORN SCREENING REGISTRIES
Section 661.100 Newborn Screening Registries
The Department shall maintain a Newborn Screening Registry
or Registries to collect, store, analyze, release, and report newborn blood
spot, newborn hearing and newborn heart screening data including the results of
diagnosis and treatment for all cases identified. The Registry or
Registries will include information regarding patient and parent demographics,
all screening, diagnosis, treatment, intervention, follow-up, parent support, parent-to-parent
support and outcome evaluation of children diagnosed through newborn screening.
The Department will annually request updated information from the medical
specialist or primary care provider concerning developmental milestones for
each child diagnosed with a disorder, for which the Department screens, through
six years of age.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.110 EARLY HEARING DETECTION AND INTERVENTION (EHDI) REGISTRY
Section 661.110 Early Hearing Detection and Intervention
(EHDI) Registry
a) The
Department will maintain a registry of cases. The Department will maintain
a registry documenting screening, diagnosis, and intervention of cases of
positive hearing screening results, including information needed for the
purpose of follow-up services. (Section 15 of the EHDI Act).
b) Physicians,
advanced practice registered nurses, physician assistants, otolaryngologists,
audiologists, ancillary health care providers, early intervention programs and
providers, parent support, parent-to-parent support programs, the
Department of Human Services, and the University of Illinois at Chicago
Division of Specialized Care for Children shall report all hearing testing,
medical treatment, and intervention outcomes related to newborn hearing
screening or newly identified hearing loss for children birth through 6 years
of age to the Department, including newborns, infants and children born
out-of-state and in need of follow-up services in Illinois. Reporting shall
be done within 7 days after the date of service or after an inquiry from the
Department. (Section 10 of the EHDI Act). Reports shall be submitted to
the Department in a format determined by the Department.
c) Medical
care facilities shall submit the following for every newborn, infant or child to
whom a newborn hearing screening test is administered:
1) Newborn,
infant or child's name (first, middle and last);
2) Newborn,
infant or child's date of birth;
3) Nursery,
i.e., NICU, SCBU, well baby;
4) Newborn,
infant or child's gender;
5) Newborn,
infant or child's birth order;
6) Newborn,
infant or child's place of birth;
7) Unique
identification number assigned to newborn, infant or child's;
8) Full
legal name of both parents;
9) Full
legal name of legal guardian or caregiver, if applicable;
10) Date
of birth of both parents;
11) Date
of birth of legal guardian or caregiver, if applicable;
12) Time,
date, screening technology and individual-ear screening results for each
screening session;
13) Any
risk factors for hearing loss;
14) Follow-up
plan of care;
15) Medical
care facility to where the newborn, infant or child is transferred, date of
transfer and reason for transfer, if applicable;
16) Date
of death for newborns, infant or children who expire
prior to discharge, if applicable;
17) Name
of the facility or physician submitting the test results; and
18) Address
of facility or physician submitting the test results.
d) Medical
care facilities shall submit the following for every newborn, infant or child
who does not pass the final hearing screening prior to discharge:
1) Residential
address and telephone number, including street address, city, county, state and
ZIP code of newborn or infant;
2) Residential
address and telephone number, including street address, city, county, state and
ZIP code of both parents, legal guardian or caregiver, if different from
residential address and telephone number of the newborn, infant or child;
3) Interventions
administered, if any;
4) Support
services referrals, if any; and
5) Name
and address of primary healthcare provider who will care for the newborn,
infant or child after discharge.
e) EHDI
service providers
1) EHDI
service providers shall submit the following information:
A) Provider,
location and type of hearing testing; ear specific information; diagnosis;
treatment plan; and recommendations;
B) Broken
or re-scheduled appointments;
C) Follow-up
services;
D) Part C
and non-Part C intervention services, supports and enrollment status for the
newborn, infant or child and the newborn, infant or child's family, legal
guardian or caregiver; and
E) Parent,
parent-to-parent or EHDI-related support services.
2) Service
provider submissions shall include, at a minimum, the following:
A) Newborn,
infant or child's name (first, middle and last);
B) Newborn,
infant or child's date of birth;
C) Newborn,
infant or child's gender;
D) Newborn,
infant or child's primary healthcare provider or clinic;
E) Newborn,
infant or child's birthplace, if available;
F) Residential
address and telephone number, including street address, city, county, state and
ZIP code of newborn, infant or child;
G) Residential
address and telephone number, including street address, city, county, state and
ZIP code of both parents, legal guardian or caregiver, if different from
residential address and telephone number of newborn, infant or child;
H) Primary
language spoken in the home of the newborn, infant or child, if available;
I) Name,
address and credentials of service provider; and
J) Any
known risk factors for hearing loss, if available.
f) The
Department of Human Services, Bureau of Early Intervention or their designee
shall submit the following minimum information:
1) Enrollment
status of any newborn, infant or child with a confirmed or suspected hearing
loss;
2) Dates
of service to include at minimum referral, enrollment, and exit dates for early
intervention services;
3) Early
intervention service coordinator, early intervention audiologist, and early
intervention services listed on the individualized family service plan (IFSP);
and
4) Reason
for record closure when applicable.
g) For
the purposes of documentation and coordination of medical care or intervention
services, federal reporting, systematic monitoring and evaluation to
promote quality standards the Department may share identifiable newborn
hearing screening information with medical care facilities, health care
providers, early intervention programs and providers, local health departments,
the Department of Human Services, the University of Illinois at Chicago
Division of Specialized Care for Children, parent support, parent-to-parent
support organizations and the U.S. Department of Health and Human Services, Centers
for Disease Control and Prevention (CDC). (Section 23(a) of the Illinois EHDI
Act).
h) Except
in cases of willful or wanton misconduct, no health care provider, hospital, or
medical facility acting in compliance with this Section shall be civilly
or criminally liable for any act performed in compliance with this Section,
including furnishing information required according to this Section.
(Section 23(c) of the federal EHDI Act).
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.120 CONFIDENTIALITY AND ACCESS TO DATA IN NEWBORN SCREENING REGISTRIES
Section 661.120 Confidentiality and Access to Data in
Newborn Screening Registries
a) The
Department will maintain confidentiality of information that would identify
individual patients. All data in the Registry or Registries obtained directly
from medical, intervention or parent-reported records of individual patients
shall be for the confidential use of the Department and those authorized users
designated by the Department to view the individual patient records as
described in Section 661.110(g). Information contained in the Registry or
Registries shall be confidential and not subject to inspection by persons other
than authorized users designated. (Section 23 of the EHDI Act)
b) The
Department will disclose individual patient test results or patient information
to the reporting facility that originally supplied that information to the Department,
and to the primary care providers and consulting medical specialists caring for
the child. Test results may also be disclosed to the parent or legal guardian
and to the patient when 18 years of age or older.
c) Only
the minimum information necessary for the intended purpose will be disclosed.
Disclosure may take place using secure electronic means, including, but not
limited to, email, text, or secure portal, compliant with HIPAA and FERPA
security and privacy standards. A person or institution to whom information is
furnished, or to whom access to records has been given, shall not divulge any
part of the records so as to disclose the identity of the person or persons to
whom the information or records relate, except as necessary for the person's diagnosis,
treatment and interventions.
d) Identifiable
data may be released to the extent necessary for the diagnosis, treatment,
interventions, or public health surveillance for the purpose of care
coordination, follow-up services and to assess long-term outcomes.
Identifiable data may be shared for conditions of public health significance,
i.e., as permitted by HIPAA or FERPA regulations, the Medical Studies Act, and
the Health Statistics Act and in accordance with established agreements with
entities such as the CDC. As described in the Health Statistics Act, a
Department-approved Institutional Review Board or its equivalent on the
protection of human subjects in research shall review and approve requests from
researchers for individually identifiable data.
e) The
Registry or Registries shall be accessible to authorized users who have
completed a user agreement and are approved by the Department for access.
Authorized users can search, submit, and obtain information related to newborn
blood spot, newborn hearing and newborn heart screening.
f) The
Registry or Registries may only be used for the provision of services under
this Part as described in Section 661.120(d). Authorized users who engage in
any prohibited use of the Registry may be denied further access to the
Registry, in addition to any other penalties provided by law.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.130 DATA SUBMISSION
Section 661.130 Data Submission
a) The
Registry shall be accessible to authorized users for the submission of
information related to newborn blood spot, newborn hearing and newborn heart
screening. Both demographic and newborn blood spot, newborn hearing and newborn
heart screening data shall be reported by authorized users. Information shall
include, but is not limited to:
1) Patient's
name, date of birth, sex, telephone number, email address, home address,
birthplace, and mother's legal name, as well as data concerning diagnosis,
intervention, follow-up, parent support, parent-to-parent support and other
outcomes for each child with a suspected or diagnosed condition through six
years of age; and
2) Type
of newborn screen, diagnosis, intervention, parent-to-parent support, parent
support or follow-up administered, electronic health information such as Health
Level 7 message, date of service, and identity of the provider who administered
the newborn screen, diagnosis, intervention, parent support, parent-to-parent
support or follow-up.
3) EHDI
providers shall provide data to the EHDI Registry in accordance with Section
661.110.
b) An authorized
user or the authorized user's designee shall submit newborn blood spot, newborn
hearing and newborn heart screening, diagnosis, intervention, parent support,
parent-to-parent support or follow-up data to the Registry in a manner defined
by the Department.
c) Data
may be provided electronically through the Department's web-based systems,
through a secure integrated electronic system, or exchanged via Health Level 7
(HL7) 2.5.1 format or higher.
d) Authorized
users shall provide an acceptable level of data quality, such as correct data
fields, data accuracy, and adequate information to correctly identify or merge
with existing records. Data shall be reviewed to determine data quality. Any
rejected records shall be resolved by the user in no more than seven days. The
Department will suspend system privileges and take any action, as appropriate,
including termination for any user that submits inaccurate data or violates
security policies.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.140 PROVIDER SITES
Section 661.140 Provider Sites
a) As a
condition of enrollment in the Registry, the authorized user site shall enter
into and agree to comply with an authorized user agreement with the Department
and shall agree to use the Registry only for the confirmation of compliance
with screening requirements, or the screening, diagnosis, intervention,
treatment, or follow-up needs of patients, and assure that only the authorized
user or their designee will have access to the Registry;
b) Each authorized
user site staff member that requires access to the Registry shall sign an
individual user agreement and confidentiality statement that shall be kept in
the employee's personnel file.
c) In
addition to the requirements of subsections (a) through (b), the authorized
user Agreement will include the following provisions:
1) The authorized
user will abide by the requirements of the confidentiality statement and is
responsible for assuring that employees comply with confidentiality
requirements.
2) The authorized
user shall supply the name, address and type of health care provider; any
additional sites under the same organization; the method of data submission;
contact information; and the signature of the authorized user or their designee.
3) If
the agreement is violated by unauthorized use of the Registry, the Department
will terminate access to the Registry.
d) The authorized
user agreement shall be signed by a representative of the health care provider
before any training on the use of the Registry and before gaining access to
Registry data.
e) Users
shall be assigned defined roles: Key Master, Add/Edit/Delete, Add/Edit,
Reports Only, and View Only.
1) A Key
Master can create employee profiles, new authorized users, and perform all of
the functions listed in this subsection (e).
2) Add/Edit/Delete
can add, edit and delete information in the Registry.
3) Add/Edit
can only add and edit, but not delete, information in the Registry.
4) Reports
Only can only run reports in the Registry.
5) View
Only can only view information in the Registry.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.150 INDIVIDUAL USER AGREEMENT
Section 661.150 Individual
User Agreement
a) Each
employee of an authorized user site who needs access to a Registry shall sign
an individual authorized user agreement, which also includes a confidentiality
statement. Patient-specific or provider-specific information is available only
to authorized users.
b) Site
managers shall notify the Department within 48 hours after any change in status
of any Registry authorized users upon termination of employment or redefining
of roles.
c) The
Department will revoke the Registry access of an authorized user who misuses
information contained in the Registry.
d) Authorized
users are responsible for safeguarding their passwords and authorized user IDs
and for protecting the security of the computer when a Registry session is
open.
e) Any
authorized user with a profile that is dormant for greater than 120 days shall
be deactivated.
SUBPART C: NEWBORN BLOOD SPOT SCREENINGS
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.200 COLLECTION AND SUBMISSION OF SPECIMENS
Section 661.200 Collection and Submission of Specimens
a) All
blood spot samples collected pursuant to this Part shall be submitted for
testing to the laboratory designated by the Department.
b) When
a retest blood spot sample is determined to be necessary pursuant to Subpart C
of this Part, the Department will notify the primary care provider or designee
who is responsible for obtaining another specimen and having the specimen
tested.
c) For
detailed and specific information regarding collection and submission of blood
spot samples, refer to the current Illinois Department of Public Health Newborn
Screening Practitioner's Manual. Newborn Screening shall be performed on a
sample that meets the following requirements:
1) All
newborns shall have a blood spot sample collected for testing as soon as possible
after 24 hours of age.
2) Newborns
who leave the medical care facility before they are at least 24 hours of age
shall have a blood spot sample collected before discharge. The attending
physician, or the attending primary care provider's designee, shall collect a
second blood spot sample for testing between 48 and 72 hours of age.
3) Every
newborn transferred to a second health care facility prior to 24 hours of age
shall have a blood spot sample collected before transfer unless medically
contraindicated. If a newborn is transferred before a blood spot sample is
collected, the first facility shall inform the second facility that a blood
spot sample has not been collected. The second facility shall collect and
submit the blood spot sample.
4) Newborns
admitted to NICU or SCBU shall have a blood spot sample collected upon
admission regardless of age, medical condition or feeding. A second blood spot
sample shall be collected between 48 and 72 hours of age or before discharge
from the NICU or SCBU, whichever situation occurs first. For newborns less
than 34 weeks gestation or who weigh less than 2,000 grams, a third blood spot
sample shall be collected at 28 days of age or before discharge from the NICU
or SCBU, whichever situation occurs first.
5) If a
newborn requires a blood transfusion prior to 24 hours of age, a blood spot
sample shall be collected before the transfusion. If the initial blood spot
sample was collected post-transfusion, a second blood spot sample shall be
collected 48 to 72 hours post-transfusion, and a third blood spot sample shall
be collected 120 days following the last transfusion.
6) If a
newborn requires total parenteral nutrition (TPN) before 24 hours of age, a
blood spot sample shall be collected before the administration of TPN. If the
initial blood spot sample was collected before administration of TPN, a second
blood spot sample shall be collected 48 to 72 hours after the administration of
TPN.
7) If a
newborn requires antibiotic therapy before 24 hours of age, a blood spot sample
shall be collected before the administration of the antibiotic therapy. If the
initial blood spot sample was collected before administration of the antibiotic
therapy, a second blood spot sample shall be collected 48 to 72 hours after
administration of the antibiotic therapy.
8) For
newborns not born in medical care facilities or not admitted to a medical care
facility during the neonatal period (under 28 days of age), a blood spot sample
shall be collected as soon as possible, but no earlier than 24 hours after
birth.
d) Only
collection forms with attached filter paper blood spot collection cards
designated by the Department, supplied by the Division of Laboratories,
Illinois Department of Public Health, shall be used in collection and
submitting blood spot samples for newborn blood spot screening. The completed
collection form with a blood spot sample shall be submitted for testing to the
Department's designated testing laboratory.
e) Due
to the nature and severity of some disorders, prompt collection and submission
of blood spot samples is critical. Blood spot samples shall be submitted to the
Department’s designated testing laboratory within 24 hours after collection
using the courier or mailing service designated by the Department.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.210 BLOOD SPOT REPORTING
Section 661.210 Blood Spot Reporting
Any medical care facility or health care provider submitting
newborn screening specimens to the Illinois Department of Public Health
Laboratory shall comply with all requirements of this Part, and shall notify
the Department immediately whenever further testing on a newborn that was
performed by the medical care facility or another outside laboratory indicates
that:
a) phenylalanine
levels are abnormal;
b) T4
determinations are abnormal or TSH determinations are abnormal;
c) total
galactose or galactose-1-phosphate uridyl transferase determinations are
abnormal;
d) 17-hydroxyprogesterone
determinations are abnormal;
e) biotinidase
enzyme determinations are abnormal;
f) abnormal
hemoglobin patterns are identified;
g) abnormal
amino acid or acylcarnitine patterns have been identified;
h) abnormal
determinations that may indicate cystic fibrosis have been identified;
i) abnormal
determinations that may indicate a lysosomal storage disorder have been
identified;
j) abnormal
determinations that may indicate severe combined immunodeficiency or T cell
lymphopenia have been identified;
k) abnormal
determinations that may indicate adrenoleukodystrophy have been identified; or
l) abnormal
determinations that may indicate spinal muscular atrophy have been identified.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.220 RETENTION OF SPECIMENS
Section 661.220 Retention of Specimens
a) Blood spot samples received by the Department for newborn
screening will be retained for a minimum of two months.
b) If all test results obtained from a blood spot sample are
determined to be within normal range, the sample will be retained for a maximum
of four months.
c) If any test result obtained from a blood spot sample is
determined to be abnormal (i.e., out of normal range), the sample will be
retained for a minimum of six years.
d) Based on need, blood spot samples with an abnormal result may be
referred to other clinical laboratories for supplemental testing to further
characterize the abnormality.
e) Blood spot samples that the Department retains may be used:
1) Within
the Department for quality control purposes as required under the Clinical
Laboratory Improvement Amendments (CLIA);
2) Within
the Department for the development, validation, and quality assurance of
newborn screening tests; and
3) For the development, validation, and quality assurance of
newborn screening tests by public health newborn screening systems, newborn
screening partners such as the Centers for Disease Control and Prevention
(CDC), and others authorized by the Department
f) For purposes of this subsection, the following definitions
apply:
"Parent or legal
guardian" means the mother or father of a person under eighteen years of
age or one who is legally appointed to the care and management of a person
under eighteen years of age or of a person incapable of managing his or her own
affairs.
"Portion" means a
section of the residual blood spot sample which may be less than, equal to, or
greater than, the amount of sample originally tested by the Department.
With consent
from the parent or legal guardian, and sufficient
residual sample, a portion of a residual blood spot sample may be
released:
1) To a health care provider or designated CLIA certified clinical laboratory for further
analysis; or
2) To
the parent or legal guardian.
A) The
Department will charge a $25.00 fee due to administrative costs related to
disposition of residual sample;
B) The
Department will release a portion of a residual blood spot sample upon receipt
of the fee, and a signed and notarized release form from the parent or legal
guardian; and
C) Following
release of a portion of a residual blood spot by the Department to the parent
or legal guardian, the parent or legal guardian will assume full
responsibility, including ownership, storage, security, integrity, and quality
of their child's residual sample.
3) The
Department will make the determination of blood spot sample sufficiency and
provision of residual specimen consistent with this Section and standard
operating procedures.
g) After the maximum time period for retention, the Department
will destroy all blood spot samples. Residual blood spot sample destruction
will be in accordance with the Department's laboratory standard operating
procedures.
(Source: Amended at 49 Ill. Reg. 4706, effective March 25, 2025)
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.230 DESIGNATION OF MEDICAL SPECIALISTS
Section 661.230 Designation
of Medical Specialists
The Department, with the advice
of the University of Illinois Division of Specialized Care for Children, and with
the recommendation of the Advisory Committee, will designate consultants qualified
to diagnose a condition detected by screening, provide management of care, and
genetic counseling for the family, to serve as medical specialists in
specified disease categories. These medical specialists should provide clinical
consultation and management of care, as indicated by newborn screening
results, in collaboration with the primary care provider. The minimum
qualifications required for designation as a medical specialist are a license
to practice medicine in all its branches in Illinois, or licensure in the state
of practice, and certification by the American Board of Pediatrics or
equivalent board from another country. (Section 5.3 of 410 ILCS 265; Section 2
a 5.4 of 410 ILCS 240)
SUBPART D: DETAILED PROCEDURES FOR NEWBORN BLOOD SPOT CONDITIONS
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.300 ADRENOLEUKODYSTROPHY (ALD)
Section 661.300 Adrenoleukodystrophy (ALD)
a) Interpretation
of Results. Although the majority of infants affected by ALD will be
identified by this screening, due to genetic variabilities and variations in
health status, specimen quality, and timing of specimen collection, not all
infants affected by the disorder may be identified. As with any laboratory
test, false positive and false negative results are possible. Newborn
screening test results are insufficient information on which to base diagnosis
or treatment.
1) Using
tandem mass spectrometry or other methods, ALD is indicated when an elevation
of lysophosphatidylcholine (C26LPC) is detected in dried blood spots.
2) When
the C26LPC levels are found to be abnormal, the Department will recommend a
repeat newborn screening test or referral to a designated medical specialist
for further diagnostic studies.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for ALD shall be certified by the American Board of
Medical Genetics and Genomics in Clinical Biochemical Genetics, Medical
Biochemical Genetics, or possess certification by the American Board of Medical
Genetics and Genomics in Clinical Genetics with at least one year of
post-training experience in the diagnosis and treatment of ALD or other
peroxisomal disorders. ALD medical specialists shall have the capacity to
provide a multidisciplinary approach to care, including the availability of a pediatric
endocrinologist with certification of special competence in Pediatric Endocrinology
and a pediatric neurologist with certification of special competence in
Pediatric Neurology by the American Board of Pediatrics.
c) Diagnosis
and Treatment. Medical management by a designated medical specialist is highly
recommended to confirm the diagnosis of ALD and other peroxisomal disorders.
Referral to the appropriate medical team, including pediatric endocrinology and
pediatric neurology, is critical for monitoring and treatment. Long-term
follow-up is necessary to document and to assess growth and development.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.310 BIOTINIDASE DEFICIENCY
Section 661.310 Biotinidase Deficiency
a) Interpretation
of Results. Although the majority of infants affected by biotinidase
deficiency will be identified by this screening, due to genetic variabilities
and variations in health status, specimen quality, and timing of specimen
collection, not all infants affected by the disorder may be identified. As
with any laboratory test, false positive and false negative results are
possible. Newborn screening test results are insufficient information on which
to base diagnosis or treatment.
1) Laboratory
tests for biotinidase deficiency are designed to detect a deficiency of the
biotinidase enzyme. Normal test results indicate the presence of the enzyme.
Test results are abnormal when the presence of the enzyme is not detected.
2) When
the determination of the enzyme is deemed abnormal, the Department will
recommend a repeat newborn blood spot screening test or referral of the newborn
to a designated medical specialist for a quantitative determination of the
biotinidase enzyme and further diagnostic studies.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for biotinidase deficiency shall possess certification by
the American Board of Medical Genetics and Genomics in Clinical Biochemical
Genetics, Medical Biochemical Genetics or certification by the American Board
of Medical Genetics and Genomics in Clinical Genetics with at least one year of
experience post-training in the diagnosis and treatment of biotinidase
deficiency and inborn errors of metabolism. Medical specialists should have
the capacity to provide a multidisciplinary approach to care, including the
availability on site of specially trained metabolic dietitians.
c) Diagnosis
and Treatment. Medical management by a designated medical specialist is highly
recommended. Therapy with pharmacological doses of biotin is required.
Long-term follow-up of children with biotinidase deficiency is necessary to
ensure proper growth and development.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.320 CONGENITAL ADRENAL HYPERPLASIA (CAH) (SECONDARY TO 21-HYDROXYLASE DEFICIENCY)
Section 661.320 Congenital Adrenal Hyperplasia (CAH)
(Secondary to 21-hydroxylase deficiency)
a) Interpretation
of Results. Although the majority of infants affected by CAH will be
identified by this screening, due to genetic variabilities and variations in
health status, specimen quality, and timing of specimen collection, not all
infants affected by the disorder may be identified. As with any laboratory
test, false positive and false negative results are possible. Newborn
screening test results are insufficient information on which to base diagnosis
or treatment.
1) Neonatal
levels for 17-hydroxyprogesterone vary with gestational age, birth weight, time
of collection and in response to concurrent medical problems. Normal
17-hydroxyprogesterone levels shall be established using accepted statistical
techniques (for example, as described by the Association of Public Health
Laboratories, see Section 660.20).
2) When
the 17-hydroxyprogesterone level is deemed to be abnormal, the Department will
recommend a repeat newborn blood spot screening test or referral of the newborn
to a designated pediatric endocrinologist for further evaluation for CAH.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for CAH shall possess training in pediatric endocrinology
with certification of special competence in pediatric endocrinology by the
American Board of Pediatrics.
c) Diagnosis
and Treatment. Medical management by a designated pediatric endocrinologist is
highly recommended. Replacement therapy with glucocorticoids and, in some
cases, mineralocorticoids is currently the standard treatment. Long-term
follow-up of children with CAH is necessary to adjust medications and to assess
growth and development.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.330 CONGENITAL HYPOTHYROIDISM (CH)
Section 661.330 Congenital Hypothyroidism (CH)
a) Interpretation
of Results. Although the majority of infants affected by CH will be identified
by this screening, due to genetic variabilities and variations in health
status, specimen quality, and timing of specimen collection, not all infants
affected by the disorder may be identified. As with any laboratory test, false
positive and false negative results are possible. Newborn screening test
results are insufficient information on which to base diagnosis or treatment.
1) Neonatal
levels for thyroid stimulating hormone (TSH) vary with gestational age, birth
weight, time of collection and in response to concurrent medical problems.
Normal TSH and normal thyroxine (T4) levels shall be established using accepted
statistical techniques (for example, as described by the Association of Public
Health Laboratories, see Section 660.20).
2) When
the TSH level or the T4 level is deemed to be abnormal, the Department will
recommend a repeat newborn blood spot screening test or referral of the newborn
to a designated pediatric endocrinologist for further evaluation for CH and
additional serum testing for thyroid function.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for CH shall possess training in pediatric endocrinology
with certification of special competence in pediatric endocrinology by the
American Board of Pediatrics.
c) Diagnosis
and Treatment. Medical management by a designated pediatric endocrinologist is
highly recommended. Replacement therapy with thyroid hormone is currently the
standard treatment. Long-term follow-up of children with CH is necessary to
adjust medication and to assess growth and development.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.340 CYSTIC FIBROSIS (CF)
Section 661.340 Cystic Fibrosis (CF)
a) Interpretation
of Results. Although the majority of infants affected by CF will be identified
by this screening, due to genetic variabilities and variations in health
status, specimen quality, and timing of specimen collection, not all infants
affected by the disorder may be identified. As with any laboratory test, false
positive and false negative results are possible. Newborn screening test
results are insufficient information on which to base diagnosis or treatment.
1) CF is
indicated by elevated neonatal levels of immunoreactive trypsinogen (IRT) that
can be detected in dried blood spots. The normal IRT range shall be established
using accepted statistical techniques (for example, as described by the
Association of Public Health Laboratories, see Section 660.20).
2) When
elevated levels of IRT are detected, testing by genetic mutation analysis shall
be performed as part of the newborn screen, to decrease false positive
results. As there are over 1,000 mutations in the CF transmembrane conductance
regulator (CFTR) gene, testing will yield only 90 to 95 percent sensitivity.
3) When
IRT levels and/or mutation analysis are found to be abnormal indicating the
possibility of CF, the Department will recommend referral of the newborn to a
designated medical specialist for appropriate definitive testing and diagnostic
studies.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for CF shall possess certification by the American Board
of Pediatrics in Pediatric Pulmonology or Pediatric Gastroenterology. CF
medical specialists should provide the following: prompt access to
quantitative pilocarpine iontophoresis sweat chloride testing in a laboratory
that meets all CLSI standards; a multidisciplinary approach to care, including
the availability of genetic counselors, dietitians, respiratory therapists and
social workers; and access to microbiology laboratories that use CF-specific
protocols for detection of respiratory tract infection.
c) Diagnosis
and Treatment. Medical management by a designated medical specialist is highly
recommended. Prompt evaluation of exocrine pancreatic status coupled with
nutritional counseling is recommended after diagnostic confirmation. Close
follow-up by a medical specialist is recommended to monitor and treat changes
in nutrition and respiratory infection status.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.350 GALACTOSEMIA
Section 661.350 Galactosemia
a) Interpretation
of Results. Although the majority of infants affected by galactosemia will be
identified by this screening, due to genetic variabilities and variations in
health status, specimen quality, and timing of specimen collection, not all
infants affected by the disorder may be identified. As with any laboratory
test, false positive and false negative results are possible. Newborn screening
test results are insufficient information on which to base diagnosis or treatment.
1) Laboratory
tests for galactosemia may be performed by testing for total galactose
(galactose and galactose-1-phosphate) or a deficiency of the
galactose-l-phosphate uridyl transferase enzyme. Normal test results indicate a
normal level of total galactose or the presence of the enzyme. Test results
are abnormal when the level of total galactose is above the normal range or the
presence of the enzyme is reduced or not detected. Blood transfusion can cause
a false negative test result for galactosemia for up to 120 days
post-transfusion. Normal ranges shall be established using accepted
statistical techniques (for example, as described by the Association of Public
Health Laboratories, see Section 660.20).
2) When
the galactose or enzyme levels are deemed abnormal, recommendations may be
given to change the diet of the infant to a galactose free diet. The Department
will recommend a repeat newborn screening test or referral of the newborn to a
designated medical specialist for further diagnostic studies
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for galactosemia shall possess certification by the American
Board of Medical Genetics and Genomics in Clinical Biochemical Genetics or
Medical Biochemical Genetics or by the American Board of Medical Genetics and
Genomics in Clinical Genetics with at least one year of experience
post-training in the diagnosis and treatment of galactosemia and inborn errors
of metabolism. Galactosemia medical specialists should have the capacity to
provide a multidisciplinary approach to care, including the availability on
site of specially trained metabolic dietitians.
c) Diagnosis
and Treatment. Medical management by a designated medical specialist is highly
recommended. Therapy with a galactose free diet is currently the standard
treatment. Long-term follow-up of children with galactosemia is necessary to
ensure proper growth and development.
ADMINISTRATIVE CODE TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661 NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.360 LYSOSOMAL STORAGE DISORDERS (LSDS)
Section 661.360 Lysosomal Storage Disorders (LSDs)
a) Interpretation
of Results. Although the majority of infants affected by an LSD will be
identified by this screening, due to genetic variabilities and variations in
health status, specimen quality, and timing of specimen collection, not all
infants affected by the disorder may be identified. As with any laboratory
test, false positive and false negative results are possible. Newborn screening
test results are insufficient information on which to base diagnosis or
treatment.
1) An
LSD can be detected in dried blood spots by using tandem mass spectrometry or
other methods. Normal testing parameters shall be established using accepted
statistical techniques (for example, as described by the Association of Public
Health Laboratories, see Section 660.20).
2) When
enzyme activity is found to be decreased, thus indicating the possibility of an
LSD, the Department will recommend referral of the newborn to a designated
medical specialist for appropriate definitive testing and diagnostic studies.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for LSD shall possess certification by the American Board
of Medical Genetics and Genomics in Clinical Biochemical Genetics or Medical
Biochemical Genetics with at least one year of experience post-training in the
diagnosis and treatment of LSDs. Medical specialists should have the capacity
to provide enzyme replacement infusion therapies and to provide a
multidisciplinary approach to care, including, but not limited to, the
availability of pediatric specialists in neurology, cardiology and pulmonology.
In addition to the above requirements, for Krabbe disease and metachromatic leukodystrophy (MLD), medical
specialists should be affiliated with a facility that has experience in
performing stem cell transplantation.
c) Diagnosis
and Treatment. Medical management by a designated medical specialist is highly
recommended. Enzyme replacement therapy or stem cell transplant have
demonstrated benefits for patients with these disorders. Long-term follow-up
of children with an LSD is necessary to monitor treatment and to assess growth
and development.
(Source:
Amended at 49 Ill. Reg. 13014, effective October 6, 2025)
|
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.370 AMINO ACID, ORGANIC ACID AND FATTY ACID OXIDATION DISORDERS
Section 661.370 Amino Acid, Organic Acid and Fatty Acid
Oxidation Disorders
a) Interpretation
of Results. Although the majority of infants affected by amino acid, organic
acid and fatty acid oxidation disorders will be identified by this screening,
due to genetic variabilities and variations in health status, specimen quality,
and timing of specimen collection, not all infants affected by the disorder may
be identified. As with any laboratory test, false positive and false negative
results are possible. Newborn screening test results are insufficient
information on which to base diagnosis or treatment.
1) The
patient metabolite distribution patterns shall be compared to normal
populations. Pattern analysis, and internal metabolite ratios relative to
normal populations, shall be calculated using accepted statistical techniques
(for example, as described by the Association of Public Health Laboratories,
see Section 660.20).
2) When
blood levels or ratios are found to be abnormal, indicating the possibility of
a metabolic condition harmful to the infant, the Department will recommend a
repeat newborn screening test or referral of the newborn to a designated
medical specialist for appropriate definitive testing and diagnostic studies.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, the medical specialist shall possess the following:
1) For
all disorders of amino acid, and organic acid metabolism, medical specialists designated
by the Department to follow-up on a screen positive result shall possess
certification by the American Board of Medical Genetics and Genomics in
Clinical Biochemical Genetics, Medical Biochemical Genetics or certification by
the American Board of Medical Genetics and Genomics in Clinical Genetics with
at least one year of experience post-training in the diagnosis and treatment of
amino acid and organic acid disorders. The disorders of amino acid and organic
acid metabolism medical specialist shall have the capacity to provide a
multidisciplinary approach to care, including the availability on site of
specially trained metabolic dietitians and a biochemical genetics laboratory;
for citrullinemia and argininosuccinic aciduria, medical specialists should
have on-site availability of required medical therapies, such as hemodialysis,
that are necessary for the treatment of patients with these disorders.
2) For
fatty acid oxidation disorders, medical specialists designated by the
department to follow-up on a screen positive result shall possess certification
by the American Board of Medical Genetics and Genomics in Clinical Biochemical
Genetics, Medical Biochemical Genetics or certification by the American Board
of Medical Genetics and Genomics in Clinical Genetics with at least one year of
experience post-training in the diagnosis and treatment of fatty acid oxidation
disorders. Fatty acid oxidation disorders medical specialists should have the
capacity to provide a multidisciplinary approach to care, including the availability
on site of specially trained metabolic dietitians.
c) Diagnosis
and Treatment. The Department shall supply the necessary medically
prescribed metabolic treatment formulas where practicable for Illinois
residents with diagnosed cases of a metabolic disorder on the
Department’s newborn screening panel. Services will be provided for as long
as medically indicated, when the product is not available through other State
agencies, and funding is available. Long-term follow-up of individuals with
these metabolic disorders is necessary to adjust diet and to assess growth and
development. Annual medical management by a designated medical specialist is
required in order for a patient to receive treatment formulas from the
Department. Many of these disorders can be properly and supportively managed by
dietary therapy. Ongoing care of these children will require long-term
follow-up by the medical specialist to ensure proper development. The
administration of treatment formulas will not be initiated until further
testing has been performed under the direction of a designated medical
specialist to establish the diagnosis. The Department will work with the
designated medical specialist to provide the metabolic treatment formula
required by the affected individual. [410 ILCS 240/2(a)(5.3)]
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.380 SEVERE COMBINED IMMUNODEFICIENCY (SCID) AND T-CELL LYMPHOPENIA
Section 661.380 Severe Combined Immunodeficiency (SCID)
and T-Cell Lymphopenia
a) Interpretation
of Results. Although the majority of infants affected by SCID or T-cell
lymphopenia will be identified by this screening, due to genetic variabilities
and variations in health status, specimen quality, and timing of specimen
collection, not all infants affected by the disorder may be identified. As
with any laboratory test, false positive and false negative results are
possible. Newborn screening test results are insufficient information on which
to base diagnosis or treatment.
1) SCID
can be detected in dried blood spots by using DNA-based methods, such as
polymerase chain reaction (PCR) or other methods. Normal testing parameters
shall be established using accepted statistical techniques (for example, as
described by the Association of Public Health Laboratories, see Section 660.20).
2) When
screening results indicate the possibility of SCID or other T-cell
lymphopenias, the Department will recommend referral of the newborn to a
designated medical specialist for appropriate definitive testing and diagnostic
studies
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, the medical specialist designated by the Department to
follow-up on a screen positive for SCID shall possess certification by the
American Board of Allergy and Immunology with at least one year post-training
experience in the diagnosis and treatment of primary immunodeficiency
diseases. Medical specialists should have the capacity to diagnose SCID,
DiGeorge syndrome or other causes of T-cell lymphopenia and to provide a
multidisciplinary approach to treatment, including access to specialists in
stem cell transplantation, and be affiliated with a facility that has
experience in performing stem cell transplantation.
c) Diagnosis
and Treatment. Medical management by a designated medical specialist is highly
recommended to confirm the diagnosis of SCID or other causes of T-cell
lymphopenia and to start therapy as soon as possible. Adenosine deaminase
deficient SCID can be treated by enzyme replacement and immunoglobulin
replacement therapies. All forms of SCID can be treated by stem cell
transplantation, while a few forms of SCID can be treated by gene therapy.
Complete DiGeorge syndrome can be treated by thymic transplantation. Long-term
follow-up is necessary to document immune reconstitution and to assess growth
and development.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.390 SICKLE CELL DISEASE/TRAIT AND OTHER HEMOGLOBINOPATHIES
Section 661.390 Sickle Cell Disease/Trait and Other
Hemoglobinopathies
a) Interpretation
of Results. Although the majority of infants affected by sickle cell
disease/trait and other hemoglobinopathies will be identified by this
screening, due to genetic variabilities and variations in health status, sample
quality, and timing of sample collection, not all infants affected by the
disorder may be identified. As with any laboratory test, false positive and
false negative results are possible. Newborn screening test results are
insufficient information on which to base diagnosis or treatment. Qualitative
testing will determine the presence of various hemoglobins.
1) When
hemoglobin F and hemoglobin S, but no hemoglobin A, are detected on the same
sample, the Department will recommend referral to a designated medical
specialist for follow-up and genetic counseling.
2) When
hemoglobin F, hemoglobin S and hemoglobin C, but no hemoglobin A, are detected
on the same sample, the Department will recommend referral to a designated
medical specialist for follow-up and genetic counseling.
3) When
hemoglobin F, hemoglobin A and hemoglobin C or hemoglobin F, hemoglobin A and
hemoglobin S are detected on the same sample, the Department will recommend
parental testing and genetic counseling by the attending physician or another
qualified counselor.
4) When
hemoglobin F and other hemoglobins, such as hemoglobin D, hemoglobin E or
hemoglobin H (Bart's) are detected, the Department will recommend referral to a
designated medical specialist for follow-up and genetic testing.
5) When
hemoglobin A is detected as the predominant hemoglobin, and the blood spot
sample was collected at less than two months of age, a written report will be
sent to the submitter. The medical provider shall collect a repeat newborn
screening blood spot sample at 120 days post-transfusion if the initial sample
was collected post-transfusion.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for sickle cell disease/trait and other hemoglobinopathies
shall have training in pediatric hematology and certification of special
competence in pediatric hematology-oncology by the American Board of
Pediatrics.
c) Diagnosis
and Treatment. Medical management by a designated pediatric
hematologist-oncologist is highly recommended. Antibiotic prophylaxis and
immunization to prevent pneumococcal infections and treatment with hydroxyurea
are currently the standard treatment after a designated medical specialist has
made a definitive diagnosis of a sickling disease. Long-term follow-up of
children with sickle cell disease/trait is necessary to assess growth and
development.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.400 SPINAL MUSCULAR ATROPHY (SMA)
Section 661.400 Spinal Muscular Atrophy (SMA)
a) Interpretation
of Results. Although the majority of infants affected by SMA will be
identified by this screening, due to genetic variabilities and variations in
health status, sample quality, and timing of sample collection, not all infants
affected by the disorder may be identified. As with any laboratory test, false
positive and false negative results are possible. Newborn screening test
results are insufficient information on which to base diagnosis or treatment.
1) SMA
is indicated when an SMN1 deletion is detected in dried blood spot samples by
using DNA-based methods, such as polymerase chain reaction (PCR) or other
methods. Normal testing parameters will be established using accepted
statistical techniques (for example, as described by the Association of Public
Health Laboratories, see Section 660.20).
2) When
the SMN1 deletion is found, thus indicating the possibility of SMA, the
Department will recommend referral of the newborn to a designated medical
specialist for appropriate definitive testing and diagnostic studies.
b) Designation
of Medical Specialist. In addition to the minimum qualifications set out in
Section 661.230, medical specialists designated by the Department to follow-up
on a screen positive for SMA shall have certification by the American Board of
Medical Genetics and Genomics in Clinical Biochemical Genetics. Certification
by the American Board of Psychiatry and Neurology in Pediatric Neurology or
Pediatric Neuromuscular Medicine, or certification by the Board of Pediatrics
in Pediatric Pulmonology with at least one year of experience post-training in
the diagnosis and treatment of spinal muscular atrophy. Medical specialists
shall have the capacity to provide prompt access to a multidisciplinary care
center which includes the availability of pediatric genetics, neurology,
pulmonology, cardiology, orthopedics, medical nutrition therapy, physical
therapy, and occupational therapy.
c) Diagnosis
and Treatment. Medical management by a designated medical specialist is highly
recommended to confirm the diagnosis of spinal muscular atrophy. Referral to
the appropriate medical team, including pediatric neurology, is critical for
treatment. Long-term follow-up is necessary to document and to assess growth
and development.
(Source:
Amended at 48 Ill. Reg. 5175, effective March 12, 2024)
SUBPART E: DETAILED PROCEDURES FOR NEWBORN NON-METABOLIC CONDITIONS
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.500 CRITICAL CONGENITAL HEART DISEASE (CCHD)
Section 661.500 Critical Congenital Heart Disease (CCHD)
a) All
newborns, including those in the neonatal intensive care unit, special care
baby unit, and birth centers, shall receive pulse oximetry screening for
critical congenital heart disease after 24 hours of age or before medical care
facility discharge unless exempted from screening in accordance with subsection
(b). [410 ILCS 240/1.10 2b]
b) Newborns
are exempt from pulse oximetry screening for CCHD if:
1) A
religious exemption is filed by a parent or legal guardian;
2) A
prenatal diagnosis of a cardiac defect has been determined; or
3) An
echocardiogram has already been performed.
c) If a
failed screening is identified, the newborn shall be evaluated by a medical
provider. If no cause for the hypoxia is found, the newborn shall receive an
echocardiogram before medical care facility discharge. If an echocardiogram
cannot be performed at the medical care facility where the failed screen is
identified, the newborn shall be transferred to the nearest facility with
echocardiogram capabilities if deemed medically necessary.
d) Medical
care facilities shall report results of screening and follow-up evaluations to
the Department within seven calendar days using the data system specified by
the Department.
e) Medical
management by a licensed pediatric cardiologist and referral to a Level III
Neonatal Intensive Care Unit with the ability to perform cardiac surgery is highly
recommended.
SUBPART F: EARLY HEARING DETECTION AND INTERVENTION (EHDI)
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.599 NEWBORN HEARING SCREENING PROGRAM GOALS
Section 661.599 Newborn Hearing Screening Program Goals
a) All
infants born in Illinois will have their hearing screened prior to discharge
from the hospital that performed the delivery, or no later than one month of
age, whichever comes first.
b) All
newborns referred from the Illinois Newborn Hearing Screening Program will have
diagnostic testing completed by three months of age.
c) All
infants diagnosed with significant hearing loss will be referred to the
University of Illinois at Chicago Division of Specialized Care for Children's
Program for children with special health care needs authorized by the
Specialized Care for Children Act [110 ILCS 345] and the Early Intervention
Program (89 Ill. Adm. Code 500) authorized by the Early Intervention Services
System Act [325 ILCS 20] by six months of age.
(Source: Recodified from 77 Ill.
Adm. Code 662.10 to 77 Ill. Adm. Code 661.599 at 47 Ill. Reg. 12808)
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.600 NEWBORN HEARING SCREENING
Section 661.600 Newborn Hearing
Screening
a) Each
medical care facility shall conduct bilateral hearing screening of each newborn
infant, including newborns and infants in a NICU or SBCU, prior to
discharge unless medically contraindicated or the infant is transferred to
another hospital before the hearing screening can be completed. If the infant
is transferred to another hospital prior to completion of the hearing
screening, the hospital to which the infant is transferred shall complete the
hearing screening prior to discharge. (Section 5(a) of the EHDI Act). All
medical care facilities shall make provisions for outpatient screenings when a
newborn hearing screening was missed, or the newborn or infant had an
incomplete hearing screening, during the inpatient stay.
b) A
newborn hearing screening or rescreening test shall screen both ears at the
same time, of the newborn, infant or child. No more than two inpatient
screening test sessions shall be completed on the newborn or infant. Each
screening session will be considered a separate test.
c) The
medical care facility shall provide a single rescreening session to any newborn
or infant does not pass either ear during the initial screening session. The
rescreening session shall be conducted prior to discharge of the newborn or
infant and shall be a single valid rescreen of both ears in the same session,
regardless of initial screening results.
d) If
there is no hearing screening result, or if an infant does not pass a
hearing screening in both ears at the same time, then the medical care
facility shall refer the infant's parents or legal guardians to a health
care practitioner or pediatric audiologist for follow-up, and document
and report the referral, including the name of the health care practitioner
or pediatric audiologist, to the Department (Section 5(b) of the EHDI
Act). If a newborn or infant does not pass either ear prior to discharge, the
medical care facility shall:
1) Make
a reasonable effort to ensure that the newborn has an outpatient hearing
screening completed before the newborn is 30 days of age or, when appropriate,
is scheduled with a pediatric audiologist for testing.
2) Notify
the primary healthcare provider who will care for the newborn, infant or
child after discharge of the hearing screening results and follow-up plan of
care; and
3) Document
the follow-up plan of care, including outpatient screening results, to the
Department within 7 days. (Section 5(b) of the EHDI Act)
e) If a
newborn or infant is readmitted after discharge from the medical care facility,
when there are conditions associated with potential elevated hearing
thresholds, then a hearing rescreening shall be performed even if the newborn
or infant has passed newborn hearing screening prior to the development of the
condition requiring re-admission.
f) Any
newborn, infant or child who receives a diagnosis of a suspected or confirmed
hearing loss shall be referred for Early Intervention by the medical or
ancillary care provider in accordance with the Early Intervention Services
System Act. The Department recommends that the medical care provider also
refer to parent-to-parent support and parent support services. Early intervention
or parent-to-parent support services shall be initiated no later than six
months of age unless contraindicated (Section 23(b) of the EHDI Act).
g) The
medical care facility performing the hearing screening shall report the results
of the hearing screening to the Department within 7 days of screening. (Section
5(b) of the EHDI Act).
h) All
medical care facilities shall make provisions for an outpatient screening for
infants born outside a medical care facility (i.e., home births). (Section
5(a) of the EDHI Act). For infants born outside a medical care facility,
the newborn's primary care provider shall refer the patient to a medical care
facility for the hearing screening to be done in compliance with this Part
within 30 days after birth, unless a different time period is medically
indicated. (Section 5(b) of the EHDI Act)
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.610 RESPONSIBILITIES OF MEDICAL CARE FACILITIES
Section 661.610 Responsibilities of Medical Care
Facilities
a) All
medical care facilities shall provide written information to all parents, legal
guardians or caregivers before the newborn hearing screening is administered.
The written information shall include:
1) Purpose
and benefits of the hearing screening;
2) Description
of typical auditory development;
3) Description
of the procedures used for hearing screening;
4) Risk
factors for hearing loss;
5) Factors
that could result in a referral for further hearing screening; and
6) Importance
of timely follow-up for hearing testing and intervention.
b) After
completion of the newborn hearing screening, medical care facilities shall
provide to parents, legal guardians, or caregivers, orally and in writing, the
following information:
1) Time,
date, screening technology and individual-ear screening results for the final
screening session prior to discharge; and
2) Follow-up
plan of care, including the coordination of follow-up screening or diagnostic
appointments and service locations.
c) The
medical care facility shall maintain written documentation of the newborn
hearing screening in the newborn, infant or child's medical record, including
the following information:
1) Time,
date, screening technology and individual-ear screening results for the final
screening session prior to discharge;
2) Individual
administering each screening test;
3) Follow-up
plan of care, including the coordination of follow-up screening or diagnostic
appointments and service locations; and
4) Documentation
of screening refusal, if applicable.
d) Newborn
hearing screening shall be performed by an individual who is supervised by a
licensed healthcare professional (recommended to be a licensed audiologist per
2019 Joint Committee on Infant Hearing Statement). The supervising healthcare
professional and screener shall be trained in the following areas:
1) Anatomy
and physiology of the ear;
2) Nature
of responses being measured;
3) Patient
and non-patient factors that influence responses;
4) Hearing
screening procedures;
5) Documentation
of results;
6) Type
of screening equipment to be used;
7) Operation
of the screening equipment;
8) Time
frames for screening;
9) Provision
of results to the parents, legal guardian or caregiver, the primary medical
care provider, and the Department;
10) Confidentiality
requirements;
11) Communicating
accurate and appropriate information;
12) The
plan of care if the newborn or infant passed the hearing screening; and
13) The
plan of care if the newborn or infant did not pass the hearing screening.
e) A
medical care facility shall identify a primary and secondary liaison to the
EHDI Program at the Department.
f) A
medical care facility shall identify, no later than January 1, 2023, the items
listed below and shall report any changes thereafter, within 7 days, to the Department:
1) primary
and/or secondary EHDI liaison;
2) hearing
screening protocol; and/or
3) hearing
screening equipment.
g) A
medical care facility shall inform the Department no less than 30 days before
any changes related to the outsourcing of newborn hearing screening services.
h) A
medical care facility shall designate a manager or coordinator employed by the
facility who is responsible for the oversight of newborn hearing screening
services. The manager or coordinator shall be a licensed healthcare
professional. The manager or coordinator shall be responsible for the
following:
1) Documentation
of medical care facility EHDI policy and protocols;
2) Maintenance,
operation, and replacement of the hearing screening equipment within the
equipment manufacturer's guidance;
3) Documentation
of a hearing screening plan to ensure the continuation of hearing screening
when the equipment is out of service for greater than 48 hours;
4) Training
and supervision of newborn hearing screening personnel, including retraining
and competency monitoring of newborn hearing screening personnel;
5) Monitoring
reporting to the Department; and
6) Medical
facility EHDI data management.
i) A
medical care facility shall maintain newborn hearing screening equipment that is
approved by the Food and Drug Administration for Newborn Hearing Screening and meets
the following requirements:
1) Screening
technology that measures a physiologic response; is implemented with objective
response criteria; uses a procedure that measures the status of the peripheral
auditory system and is highly correlated with auditory function; and is
approved for newborn hearing screening; and
2) Screening
methodology that detects, at a minimum, any unilateral or bilateral hearing
losses equal to or greater than 35dB HL. The methodology used should have a
false-positive rate and no less than 1% and no greater than 4%. For this
purpose, false positive rate means the proportion of newborns or infants
without hearing loss who are identified incorrectly by the screening process as
having significant hearing loss.
j) Medical
care facilities shall calibrate hearing screening equipment in the timeframe
and manner recommended by the manufacturer. Calibration should occur annually
or more frequently per manufacturer guidelines. Newborn hearing screening
equipment per manufacturer guidance.
k) A
medical care facility shall report to the Department when equipment is out of
service for greater than 48 hours.
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.620 RESPONSIBILITIES OF SERVICE PROVIDERS
Section 661.620 Responsibilities of Service Providers
a) EHDI
service providers shall comply with the Early Intervention Services System Act [325
ILCS 20] and the Early Intervention Program regulations (89 Ill. Adm. Code 500)
for all referrals, service provision and follow-up.
b) Primary
healthcare providers such as, but not limited to, physicians, advanced practice
nurses, physician assistants, and otolaryngologists shall perform the following
Early Intervention services in accordance with federal regulations (34 CFR
303.303):
1) Educate
families on newborn hearing screening, auditory and communication development,
and risk factors for hearing loss including late onset, progressive or acquired
hearing loss;
2) As
part of routine medical care, monitor for late onset, progressive or acquired
hearing loss and provide timely referrals and care coordination as appropriate;
3) Assist
the family to complete a newborn hearing screening no later than one month of
age unless medically contraindicated;
4) For
all newborns, infants or children not passing the hearing screening, assist the
family to complete diagnostic audiology services, appropriate medical
consultation, and follow-up by no later than 3 months of age, unless medically
contraindicated; and
5) For
all newborns, infants or children with a suspected or confirmed hearing loss,
make appropriate medical and intervention referrals for upon diagnosis, unless
medically contraindicated.
c) Audiologists
shall report to the Department in a format determined by the Department any
procedure or service for newborn hearing screening or for a new hearing loss
diagnosis of a child through 6 years of age. In addition to reporting
requirements, audiologists shall perform the following (Section 10 and 23(b) of
410 ILCS 213):
1) Follow
the screening and pediatric audiology guidance provided by the Year 2019 Joint
Committee on Infant Hearing Position Statement: Principles and Guidelines for
Early Hearing Detection and Intervention Programs;
2) For all
newborns, infants or children not passing a hearing screening, assist the
family to complete diagnostic audiology services, appropriate medical
consultation, and follow-up no later than 3 months of age, directly after not
passing the screening, unless medically contraindicated;
3) Complete
comprehensive diagnosis and follow-up for children with a suspected or
confirmed unilateral or bilateral hearing loss; and
4) For
all children with a suspected or confirmed hearing loss, make appropriate medical
and intervention referrals upon diagnosis, unless medically contraindicated.
d) The
certified local health department shall provide assistance to locate a family,
coordinate and schedule follow-up, document results and provide status updates
within 30 days of a referral or at the time the case is resolved to the
Department in a format determined by the Department (Section 23b of 410
ILCS 213).
| TITLE 77: PUBLIC HEALTH
CHAPTER I: DEPARTMENT OF PUBLIC HEALTH
SUBCHAPTER j: MATERNAL AND CHILD HEALTH
PART 661
NEWBORN AND INFANT SCREENING AND TREATMENT CODE
SECTION 661.630 ACCESS TO DIAGNOSTIC TESTING
Section 661.630 Access to Diagnostic Testing
a) DSCC
shall provide assistance to families of infants referred from the Universal
Newborn Hearing Screening Program in order to help them obtain diagnostic
testing to the extent the families wish assistance.
b) Referrals
for children under the Early Intervention Services System Act [325 ILCS 20]
must be made upon confirmation of hearing loss.
(Source: Recodified from 77 Ill.
Adm. Code 662.50 to 77 Ill. Adm. Code 661.630 at 47 Ill. Reg. 12808)
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