Section 661.10  Definitions

 

"Adrenoleukodystrophy" or "ALD" means a rare inborn disorder that affects the brain, nervous system, and adrenal glands because the body cannot break down certain fatty acids.

 

"Advanced practice registered nurse" means a person who is licensed as an advanced practice registered nurse under the Nurse Practice Act.

 

"Advisory Committee" means the Genetic and Metabolic Diseases Advisory Committee appointed by the Director.

 

"Amino acid disorder" means a rare inborn disorder that prevents the proper processing of amino acids, the building blocks of proteins.

 

"ASHA 2019 Guidelines" means the "Year 2019 Position Statement:  Principles and Guidelines for Early Hearing Detection and Intervention Programs" created by the Joint Committee on Infant Hearing of the American Speech-Language-Hearing Association (ASHA) and incorporated by reference in Section 661.20(c)(4).

 

"Audiologist" means a person who is licensed as an audiologist by the Illinois Department of Financial and Professional Regulation to provide audiological services under the Illinois Speech-Language Pathology and Audiology Practice Act.

 

"Auditory Brainstem Response (ABR)", as used in the ASHA 2019 Guidelines, means electrophysiologic measurement of the brainstem's response to the acoustic stimulation of the ear.

 

"Automated Auditory Brainstem Response (AABR)", as used in the ASHA 2019 Guidelines, means objective electrophysiologic measurement of the brainstem's response to acoustic stimulation of the ear, obtained with equipment that automatically provides a pass/refer outcome.

 

"Authorized user" means an individual who has signed an Individual User Agreement and Confidentiality Statement, and for whom the Department has provided credentials authorizing that person access to the Registry.

 

"Bilateral Pass", as used in the ASHA 2019 Guidelines, means there is a low likelihood of significant hearing loss in both or either ear on the day of the screening.

 

"Biotinidase deficiency" means a rare inborn disorder that prevents proper use of a vitamin called biotin.

 

"Caregiver" means a person who directly attends to the needs or concerns of a newborn, infant or child.

 

"Child" means a person between the ages of 12 months through six years.

 

"Clinical and Laboratory Standards Institute" or "CLSI" means a global nonprofit standards-developing organization that promotes the development and use of voluntary consensus standards and guidelines within the health care community.

 

"Clinical Laboratory Improvement Amendments" or "CLIA" means federal regulations (Centers for Medicare and Medicaid Services, United States Department of Health and Human Services) providing standards applicable to all facilities or sites in the United States that test human specimens for health assessment or to diagnose, prevent, or treat disease.

 

"Congenital adrenal hyperplasia" or "CAH" means a rare inborn disorder in which the body cannot produce enough of the hormone cortisol or a salt-retaining hormone.

 

"Congenital hypothyroidism" or "CH" means an inborn disorder in which the body does not make enough thyroid hormone.

 

"Critical Congenital Heart Disease" or "CCHD" includes, but is not limited to, the following heart defects present at birth:  hypoplastic left heart syndrome; pulmonary atresia with intact septum; tetralogy of Fallot; total anomalous pulmonary venous return; transposition of the great arteries; tricuspid atresia; truncus arteriosus, coarctation of the aorta, double outlet right ventricle, Ebstein anomaly, interrupted aortic arch, single ventricle, and other critical CHDs requiring treatment in the first year of life.

 

"Cystic fibrosis" or "CF" means an inborn disorder in which the body produces thick, sticky mucus that causes respiratory and digestive problems.

 

"Department" or "DPH" or "IDPH" means the Illinois Department of Public Health or its designee.

 

"Director" means the Director of the Illinois Department of Public Health or the Director's designee.

 

"Discharge" means a newborn, infant or child's release from the premises of a medical care facility and into the care of the parent or legal guardian.

 

"DSCC" means the Division of Specialized Care for Children at the University of Illinois at Chicago.

 

"Early Hearing Detection and Intervention" or "EHDI" means the program established to screen every infant for hearing loss prior to one month of age, diagnose hearing loss prior to three months of age, and provide intervention services prior to six months of age.

 

"Early Hearing Detection and Intervention Act" or "EHDI Act" means the Early Hearing Detection and Intervention Act [410 ILCS 213].

 

"Early Hearing Detection and Intervention (EHDI) Service Providers" means Physicians, advanced practice 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.

 

"Early Intervention" means the Department of Human Services' program described at 89 Ill. Adm. Code 500.10.

 

"Early intervention provider" means an individual providing developmental services to a child with a suspected or confirmed hearing loss and their family as part of a Part C or non-Part C early intervention service delivery plan.

 

"Fatty acid oxidation disorder" means a rare inborn disorder that causes the body to have trouble burning fat for energy.

 

"Formula" means a medically prescribed nutritional product that is designed and used to treat an inborn metabolic disorder.

 

"Galactosemia" means a rare inborn disorder that impairs digestion of a certain part of milk sugar called galactose.

 

"Guardian" means a person or entity legally responsible for a newborn, infant or child.

 

"Hearing loss" or "atypical hearing", as used in the ASHA 2019 Guidelines, means a dysfunction of the auditory system of any type and degree in one or both ears that is sufficient to interfere with the acquisition of communication and language skills.

 

"Hearing screening" means the completion of one or more objective, physiologic tests administered to screen the newborn, infant or child's hearing in each ear.  The screening automatically provides a pass/refer outcome in each ear suggesting the need for further testing.  The screening shall be performed by individuals who have been appropriately trained and utilize instrumentation and protocols recommended by the Joint Committee on Infant Hearing.

 

"Hearing screener" means an individual who is trained in the equipment and procedures to conduct newborn hearing screening.

 

"Hemoglobinopathies" means rare inborn disorders that impair the red blood cells' ability to carry oxygen to the body's organs and tissues.

 

"Homebirth" means any birth outside of a medical care facility or a birth where the newborn is not admitted to a medical care facility after birth.

 

"Hospital" means a facility licensed by the State of Illinois under the Hospital Licensing Act [210 ILCS 85] and for the purposes of this Part, that provides obstetrical and neonatal services. Also, for purposes of this Part, "hospitals" include children's hospitals and free standing birth centers that provide obstetrical and newborn nursery services.  (See "Medical care facility".).

 

"Incomplete hearing screening" means the required number of screening sessions were not conducted prior to discharge.

 

"Individual user agreement" means a signed agreement stating that the Registry user agrees that information that identifies a patient will not be released to any other person without the written consent of the patient.

 

"Infant" means a baby up to 1 year (through 12 months) of age.

 

"Institutional Review Board" or "IRB" means the Department of Public Health committee authorized to review research studies to ensure the rights and well-being of people who are subjects in research are protected; investigators are provided with thorough and timely review of their research proposals; and persons participating in research are assured research is conducted in an ethical and accountable manner.

 

"Lysosomal storage disorders" or "LSDs" means rare inborn disorders in which the body is unable to break down or recycle certain types of complex fats, proteins, and sugars, due to lysosomal dysfunction.

 

"Medical care facility" means a hospital, birthing center or any other licensed facility that provides obstetrical and newborn nursery services.

 

"Medical Diagnostic Evaluation" means, for the purposes of this Part, the examination and medical procedures provided by personnel qualified and licensed to perform the procedures prescribed for the specified medical conditions for which an infant is being referred.

 

"Missed" means a newborn, infant or child did not complete newborn screening.

 

"Neonatal Intensive Care Unit" or "NICU" means an intensive care unit for high-risk newborns.

 

"Newborn" means a baby in the first month of life.

 

"Newborn blood spot screening" or "newborn blood spot testing" means the testing of a dried blood spot sample for conditions defined in the Newborn Metabolic Screening Act. At times, variant forms of some disorders, or related conditions, may also be identified.

 

"Newborn hearing screening" means the completion of one or more objective, physiologic, electronic tests administered as defined by the Early Hearing Detection and Intervention Act to determine the infant's hearing status in each ear and the need for further diagnostic testing by an audiologist.

 

"Newborn heart screening" or "CCHD screening" means the completion of one or more objective, physiologic tests administered to determine the newborn's blood oxygen level and the need for further diagnostic testing by a cardiologist.

 

"Newborn Metabolic Screening Act" means the Newborn Metabolic Screening Act [410 ILCS 240].

 

"Newborn Screening Registry" or "Registry" or "Registries" means a data collection, follow-up, tracking, and reporting information system that is designed to support the Department's newborn screening program, including blood spot screening, hearing screening, and heart screening.

 

"Organic acid disorder" means a rare inborn disorder in which the body cannot remove certain waste products from the blood.

 

"Otoacoustic Emissions Testing", as used in the ASHA 2019 Guidelines, means a specific test method that elicits a physiologic response from the outer hair cells in the cochlea, and may include Transient Evoked Otoacoustic Emissions (TEOAE) and/or Distortion Product Otoacoustic Emissions (DPOAE).

 

"Otolaryngologist" means a physician trained in the medical and surgical management and treatment of patients with diseases and disorders of the ear, nose, throat (ENT), and related structures of the head and neck.

 

"Otologist" means a physician who specializes in treatment of the ear.

 

"Outpatient newborn hearing screening" means hearing screening completed after the newborn, infant or child is discharged to home.

 

"Parent support" means support services provided to parents and families of children who are deaf or hard of hearing by trained providers who support the EHDI principals.

 

"Parent-to-parent support" means support services provided to parents and families of children who are deaf or hard of hearing by trained providers who are also parents of children who are deaf or hard of hearing and who support the EHDI principals.

 

"Part C" is a section of the Individuals with Disabilities Education Act (IDEA) that defines the rights of a parent of a child, birth through age two with disabilities, who is receiving early intervention services.

 

"Pediatric audiologists" means audiologists with the equipment and experience to test children birth through six years of age for hearing loss and related issues, and who perform hearing tests and evaluations to determine the presence, extent, and reason for hearing loss in accordance with best practices and the Year 2019 Position Statement:  Principles and Guidelines for Early Hearing Detection and Intervention Programs.

 

"Plan of care" means an outline of care showing the newborn, infant or child's needs and the steps to take in meeting those needs.

 

"Primary healthcare provider" means the physician, physician assistant, advanced practice registered nurse or their agent who provides the newborn, infant, or child's routine medical care in the area where they reside after discharge.

 

"Provider site" means a health care provider or certified local health department to which the Department may release information from the Registry.

 

"Provider site enrollment" means the agreement that is signed by the provider or designee, who assumes responsibility for the proper use and protection of Registry data at the site.

 

"Public health surveillance" means the ongoing, systematic collection, analysis, and interpretation of health-related data essential to planning, implementation, and evaluation of public health practice.

 

"Risk factor" means an indicator associated with a higher risk of congenital, late-onset or acquired childhood hearing loss.

 

"Quality control" means a procedure or set of procedures to assure the accuracy of results reported by the laboratory.

 

"Severe combined immunodeficiency" or "SCID" means a group of rare inborn disorders affecting the white blood cells responsible for fighting off infections.

 

"Sickle cell disease" and "sickling disorder" means a rare inborn disorder that impairs the red blood cells' ability to carry oxygen to the body's organs and tissues. A change in the shape of the red blood cells may occur, at times resembling a sickle shape.

 

"Significant Hearing Loss" means a dysfunction of the auditory system of any type or degree that is sufficient to interfere with the acquisition of speech and language skills.

 

"Site manager" means the person at the provider site who assumes responsibility for the proper use and protection of the Registry at the site.

 

"Special Care Baby Unit" or "SCBU" means a nursery that provides intermediate intensive care to newborns and infants.

 

"Spinal muscular atrophy" or "SMA" means a genetic disorder characterized by muscle weakness and atrophy caused by a loss of motor neurons.

 

"Supplemental test" means any test approved by the United States Food and Drug Administration or validated under a laboratory's CLIA certification that is used to further characterize a newborn screening specimen that had received a positive (i.e., abnormal) result when initially screened by the laboratory.

 

"Tandem mass spectrometry" or "MS/MS" means use of a tandem mass spectrometer and associated software to test a newborn screening sample.

 

"T-cell lymphopenia" means a state in which there is a reduced level of thymus derived lymphocyte count in the bloodstream.

 

"Total parenteral nutrition" or "TPN" means a method of feeding that bypasses the gastrointestinal tract by infusing nutrient solution directly into a blood vessel.

 

"Transfer" means that the newborn, infant, or child is moved from the birth location to the responsible medical care facility or moved between medical care facilities.

 

"Using accepted statistical techniques" means using techniques that have been published in peer reviewed scientific literature.

 

(Source:  Amended at 48 Ill. Reg. 5175, effective March 12, 2024)

 

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.

 

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)]

 

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.

 

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.

 

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 $128.  When the Director makes a determination to add screening for any additional disorders in the LSD category, pursuant to Section 661.40, this fee shall be increased by $2 for each disorder added.

 

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.

SUBPART B: NEWBORN AND INFANT 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.

 

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).

 

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.

 

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.

 

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.

 

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

 

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.

 

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.

 

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 within the Department for quality control purposes as required under the Clinical Laboratory Improvement Amendments (CLIA).

 

f)         With consent from the parent or legal guardian, any remaining sample, that is residual blood spot sample, may be released to a health care provider or designated laboratory for further analysis.

 

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.

 

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

 

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.

 

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.

 

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.

 

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.

 

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.

 

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.

 

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, 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.

 

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)]

 

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.

 

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.  

 

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

 

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)

 

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)

 

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)

 

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.

 

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).

 

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)