Current through Register Vol. 49, No. 9, September, 2024
1. PURPOSE
Phenylketonuria (PKU) and Congenital Hypothyroidism (CH) are
conditions (diseases) which cause irreversible brain damage and mental
retardation unless they are detected and treated at a very early stage In the
life of a newborn individual. Early diagnosis and treatment are absolutely
essential in order to avoid these health problems.
Sickle Cell Disease (SS) Is the most common Inherited
hemoglobinopathy that may cause serious disease even In the first few months of
life. This disease occurs almost exclusively in Blacks, Orientals, and people
of Mediterranean descent. The disease causes anemia, lowered resistance to
infection, and Is associated with an Increased morbidity and mortality unless
diagnosed and treated early.
Sickle Cell Trait (AS) occurs In about 8 to io% of Black
Americans. Persons with the trait are usually healthy and experience a normal
lifespan. However, they can pass this gene on to their offspring. Children born
to 2 people who have the trait have a 25% chance of having Sickle Cell
disease.
These Rules and Regulations provide a method to assure
that:
a. All newborn infants are
tested for PKU Sind CH and all newborns with an abnormal screen receive
appropriate medical follow-up.
b.
All non-caucasian newborn Infants are tested for sickle cell anemia and all
newborns with an abnormal test receive appropriate medical follow-up.
2. AUTHORITY
These Rules and Regulations are promulgated pursuant to the
authority conferred by Act 192 of 1967, the same being Arkansas code annotated
20-15-301 et. seq.
3. RESPONSIBILITY
(A)
Collection and
Submission
(1) Medical
Facilities/Medical Staff: In all cases where the birth of an infant occurs In a
medical facility licensed by the Board of Health, it shall be the
responsibility of the governing body and medical staff of the facility to adopt
and enforce policies and procedures which ensure that blood tests for PKU, CH,
and Sickle Cell Anemia are conducted an(j processed in accordance with these
rules and regulations. The licensed facility shall also be responsible for
submission of the usable blood specimen In cases where an Infant less than six
months of age Is admitted, (i.e., born out of hospital, neonatal transfer,
etc.), and it is brought to the attention of the facility or the attending
physician that licensed medical facility without collection and submission of a
usable specimen for testing, it shall be the responsibility of the discharging
facility and the attending physician to arrange for the testing. The
discharging facilit.v and attending physician shall notify the Arkansas
Department of Health within one week of discharge if their efforts
fafi to arrange for
testing.
(2) Physicians:
Physicians assuming care of infants who are under six months of age and who
come to their attention as being untested or Inadequately tested for PKU, CH,
and Sickle Cell Anemia shall alsu be responsible for assuring
collection and submission of usable blood specimens for these
infants.
(3) Birth Attendants: In
cases where the birth occurs outside a licensed medical facility, it shall be
the responsibility of the birth attendant to ensure that a usable blood
specimen Is collected and submitted.
(4) Arkansas Department of Health: The
Arkansas Department of Health Local Health Units shall collect and submit
usable blood specimens on all infants under six months of age who come to their
attention as being untested or inadequately tested. This responsfbfIfty shall
not be In Ifeu of that of the preceding
Individuals and facilities.
(B)
Payment
(1) The submitter will be charged a fee for
the processing of newborn screening specimens by the Arkansas
Department of Health.
(2) The Board
of Health may determine the amount of this fee based on the Arkansas Department
of Health cost to process the specimens.
(C)
Laboratory
Analysis
The Arkansas Department of Health shall be responsible for:
provision of forms and instructions for the blood specimen collection;
processing and recording of the specimen received; analysis of specimen;
determination of abnormal results; and reporting of lab results within a time
period which would allow preventive medical intervention.
(D)
Follow-Up
(1) Arkansas Department of Health: The
Arkansas Department of Health shall be responsible for the interpretation of
laboratory results and the reporting of abnormal results to the submitter of
the blood specimen. If the screening result Is suggestive of Classical or
Variant PKU, or Sickle Cell Anemia, the Department of Health shall request the
parent or guardian's permission to notify relevant, statewide clinical and/or
research programs of the child's diagnosis and Identity. A tracking system for
infants Identified with PKU, CH, and Sickle Cell Anemia shall be maintained in
order to evaluate program operations and medical outcome.
(2) Submitter:
a. Upon receipt of a notice of an abnormal
test result for PKU or CH, each submitter shall be responsible for the
appropriate medical treatment, referral, and/or retesting within seven (7) days
of notification. It is strongly recommended that an endocrinologist/geneticist
be consulted.
b. Upon receipt of
notice of an abnormal test for Sickle Cell Anemia, each submitter shall be
responsible for the appropriate retesting, medical treatment, and/or referral.
It is strongly recommended that a pediatric hematologist be
consulted.
4. SPECIMEN COLLECTION AND SUBMISSION
The blood specimen for PKU, CH, and Sickle Cell Anemia testing
must be collected and submitted as described below:
(A)
Timing of Specimen
Collection
(1) For all healthy
infants born in medical facilities, the specimen shall be collected at the time
of discharge from the facility or within seven days of birth, whichever is
sooner. However, if any infant is discharged or specimen-collected prior to 24
hours of age, a repeat test for PKU and CH shall be arranged by the medical
facility and the attending physician. This repeat specimen shall be collected
by the Infant's seventh day of life. A repeat test for Sickle Cell Anemia shall
not be required if specimen was collected prior to 24 hours of age.
(2) Specimens from ill or premature Infants
shall be obtained as soon as possible after their condition has sufficiently
stabilized.
(3) Specimens from
Infants not born in medical facilities shall be collected between the second
and seventh day of life.
(4)
Infants under six months of age who are known to be untested or Inadequately
tested shall have blood specimens collected and submitted by the responsible
authority as soon as possible.
(B)
Submission of
Specimens
Specimens shall be submitted to the Division of Public Health
within 48 hours of collectioh. Specimens are submitted only on forms provided
by the Department of Health laboratory. The submitter is responsible for
supplying adequate identifying Information on the collection/report form to be
used for tracking Infants with abnormal screening results.
(C)
Forms
Submission forms may be obtained by writing to:
Public Health Laboratories Arkansas Department of Health 4815
West Markham Street Little Rock, AR 72205
The county health units will not supply these forms.
(D)
Unusable
Specimens
Inadequate, contaminated, or otherwise unusable specimens shall
be reported to the submitter after laboratory determination of an unusable
specimen. The submitter shall be responsible for assuring recollection and
resubmission within seven days of notification.
5. ARKANSAS DEPARTMENT OF HEALTH LABORATORY
ANALYSIS, INTERPRETATION, AND REPORTING OF RESULTS
(A)
Laboratory
Analysis
All specimens received by the laboratory shall be initially
examined within five working days of receipt. Abnormal results shall be
reported to the submitter within two working days of determination.
(B)
Interpretation of
Results (1)
Phenylketonuria (PKU)
a. The Arkansas Department of Health shall
define the phenylalanine level which constitutes a positive screening result
for PKU. This level shall be determined based on current state of the art
standards and practices.
b. An
infant whose phenylalanine level is determined by the Arkansas Department of
Health to be negative for PKU requires no action to be taken. However attending
physicians shall give special consideration when the testing circumstances or
infant evaluation/family history suggests the possibility of need for
rescreening In cases where PKU or PKU variants may actually exist In spite of
initial negative screening results.
(2)
Congenital
Hypothyroidism (CH)
a. The
Arkansas Department of Health shall define the thyroxine and thyroid
stimulating hormone levels which constitute positive screening results for CH.
These levels shall be determined based on current state of the
art standards and practices.
b.
Occasionally test results suggestive of CH may be reported which, upon
retesting, will be found within normal limits.
Likewise it is possible that test results which are reported as
normal In the neonatal period could mask the delayed onset of CH. While an
Infrequent occurrence, In the face of clinical findings, this possibility must
be considered by the attending physician.
(3)
Sickle Cell Anemia or
Trait
a. The Arkansas Department
of Health shall define the laboratory value which constitutes a positive
screening result for SS, AS or other related hemoglobinopathy. This value shall
be based on the current state of the art, standards, and practices.
b. An Infant whose hemoglobin is determined
by the Arkansas Department of Health to be negative for SS or other related
hemoglobinopathies requires no special action.
The medical caretaker shall give special consideration to
retesting any infant whose case findings, testing circumstances, or family
history seem to medically warrant it.
(C)
Reporting of
Results
(1) Phenylketonuria
<PKU) and Congenital Hypothyroidism (CH)
a)
Immediately upon obtaining the initial positive screening result, the
Department of Health shall notify the submitter, who shall be responsible for
Insuring that prompt follow-up diagnostic testing Is
conducted.
(b)
Appropriate, expectant medical management shall not be withheld pending the
confirmatory test results for either PKU or CH. Therefore, a non-physician
submitter shall Immediately refer the infant for appropriate medical
Intervention. It Is recommended that a pediatric geneticist or endocrinologist
consultant be utilized In the management of these Infants.
(2) Sickle Cell Anemia
(a) Immediately upon obtaining the Initial
positive screening result, presumptive of SS or other related
hemoglobinopathy, the Department of Health shall notify the
submitter, who shall be responsible for Insuring that prompt follow-up
diagnostic testing is conducted.
(b) Appropriate, expectant medical management
shall not be withheld pending the confirmatory test results for either SS or
other related hemoglobinopathy. Therefore, a non-physician submitter shall
immediately refer the Infant for appropriate medical Intervention. It Is
recommended that a pediatric hematologlst consultant be utilized in the
management of these infants.
(c)
Immediately upon obtaining an Initial positive screening, presumptive of trait,
the Department of Health shall notify the submitter in writing. The parent
shall be notified in writing by the Department of Health.
6. ARKANSAS DEPARTMENT
OF HEALTH'S ROLE IN TREATMENT AND MONITORING
(A)
Listing of
Consultants(1) Phenylketonuria
(PKU) and Congenital Hypothyroidism (CH)
The Department of Health shall maintain a list of assenting
consultants In pediatric endocrinology or genetics for PKU and CH, and shall
make the names of such physicians known to the attending physicians of infants
with abnormal screening test results.
(2) Sickle Cell Anemia
The Department of Health shall maintain a list of assenting
consultants In pediatric hematology and shall make the names of such physicians
known to the attending physicians of Infants with positive test results.
(B)
Reqistrv
(1)
Phenylketonuria (PKU) and Congenital Hypothyroidism (CH)
The Department of Health shall also maintain a registry to
record the results of diagnosis and to track referral for those infants In whom
abnormal findings were noted during the screening process.
(2) Sickle Cell Anemia
The Department of Health shall maintain a registry to record
the results of diagnosis and to track referral for those Infants in whom the
disease was noted during the screening process.
(C)
Nutritional
Therapy(1) Phenylketonuria (PKU)
Nutritional therapy with los phenylalanine formula and/or foods
shall be instituted after the diagnosis of PKU. Nutritional counseling and low
phenylalanine formula may be provided by the Department of Health, under the
direction of a physician.
7. SEVERABILITY
If any provision of these Rules and Regulations, or application
thereof to any person or circumstance is held invalid, such invalidity shall
not affect other provisions or applications of these Rules and Regulations
which give effect without the invalid provisions or applications, and to this
end the provisions hereto are declared to be severable.
