Àrea III: Comunicació i representació de la realitat

R9-14-501. Definitions

R9-14-502. Testing of Newborns

R9-14-503. Persons and Health Care Facilities Responsible for Tests R9-14-504 Parent or Guardian Education

R9-14-505. Collection of Screening Fees

ARTICLE 5. TESTS FOR METABOLIC DISORDERS AND HEMOGLOBINOPATHIES R9-14-501. Definitions

In this Article, unless context otherwise requires:

1. "Biotinidase deficiency" means a congenital metabolic disorder characterized by abnormal biotinidase production which causes mental retardation if not treated early in life.

2. "Committee" means the newborn screening program committee appointed by the Director.

3. "Congenital hypothyroidism" means a metabolic disorder characterized by a deficiency of thyroid hormone (thyroxin) production which causes mental and physical retardation if not

treated early in life.

4. "Department" means the Department of Health Services.

5. "Director" means the Director of the Department of Health Services.

6. "Galactosemia" means a congenital metabolic disorder characterized by abnormal galactose metabolism which causes mental retardation or death if not treated early in life.

7. "Health care facility" means any establishment, public or private, that provides facilities for obstetrical care and care to a newborn.

8. "Health care provider" means the physician, nurse practitioner, or licensed midwife caring for the newborn after delivery.

9. "Hemoglobinopathies" mean a group of inherited diseases characterized by an abnormality in the production and function of hemoglobin.

10. "Homocystinuria" means a congenital metabolic disorder characterized by abnormal methionine metabolism which causes mental retardation if not treated early in life.

11. "Initial screen" means laboratory procedures performed on the first acceptable specimen of blood to detect the presence of metabolic disorder and/or a hemoglobinopathy.

12. "Maple syrup urine disease" or "M.S.U.D." means a congenital metabolic disorder of branch chain amino acid metabolism which causes mental retardation or death if not treated early in life.

13. "Newborn" means an infant 30 days of age and under for whom a certificate of live birth is required by A.R.S. § 36-322 to be filed with the Department.

14. "Newborn screening laboratory" means a laboratory with which the Department contracts to conduct testing of the newborn screening specimens.

15. "Newborn Screening Program" means the administrative and coordination program of the Department, the newborn screening laboratory, and the follow-up services provided by designated clinical service providers.

16. "Newborn Screening Tests" means the laboratory procedures performed on a sample of blood to detect the presence of metabolic disorders and hemoglobinopathies as stated in R9-14-502.

17. "Phenylketonuria or P.K.U." means a congenital metabolic disorder characterized by abnormal phenylalanine metabolism which causes mental retardation if not treated early in life.

18. "Repeat test" means laboratory procedures performed on a specimen of blood to verify an abnormal result reported on the initial or second screen.

19. "Second screen" means laboratory procedures performed on a second specimen of blood if the initial specimen was collected within 24 hours of birth.

20. "Sickle cell diseases" mean a group of hemoglobinopathies characterized by the distortion of the red blood cells which may lead to septicemia or death in infancy if not adequately treated.

21. "Specimen collection kit" means a filter paper kit that is either licensed or approved by the Food and Drug Administration and has been approved by the newborn screening laboratory.

22. "To order" means to direct appropriate personnel to obtain specimens and send them for laboratory tests.

23. "Unsatisfactory specimen" means any blood sample rejected by the Newborn Screening Laboratory, prior to testing, that could provide unreliable, misleading, or clinically inaccurate results.

24. "Working day" means 8:00 a.m. to 5:00 p.m. Monday through Friday excluding state holidays R9-14-502. Testing of Newborns

A. The attending physician or other person required to make a report on the birth of a newborn born in Arizona shall order or cause to be ordered the following tests for metabolic disorders and

hemoglobinopathies: phenylketonuria, galactosemia, congenital hypothyroidism, biotinidase deficiency, homocystinuria, maple syrup urine disease, sickle cell disease, and other hemoglobinopathies. If a parent or guardian refuses the newborn screening tests, such refusal shall be documented in writing and shall be part of the newborn's medical record with a copy sent to the Newborn Screening Program.

B. If the initial screening sample was collected within 24 hours of birth, the responsible person shall inform the newborn's parents or guardian that a second screen for metabolic disorders shall be performed between 3 and 7 days of age.

C. The specimens for testing shall be sent, no later than 24 hours or the next working day after being obtained, to the newborn screening laboratory.

D. The results from all abnormal newborn tests for metabolic and/or hemoglobin disorders shall be reported to the Newborn Screening Program, which shall notify the health care provider.

E. The results from any confirmatory testing, ordered in response to an abnormal newborn screen, shall be reported to the Newborn Screening Program.

R9-14-503. Persons and Health Care Facilities Responsible for Tests A. Births occurring in a health care facility.

1. The health care provider shall order the tests or shall ensure that the tests are ordered.

2. The administrator in charge of the health care facility or the administrator's designee shall ensure that specimens are collected on all newborns born or transferred to that health care facility. The newborn's medical record shall indicate that the tests were ordered or that the parent or guardian refused the test.

3. The specimens for these tests shall be obtained when the newborn is three days of age or immediately prior to the time of discharge from the health care facility, whichever is earlier.

4. The specimen shall be capillary or venous blood and shall be collected utilizing a specimen collection kit obtained from the newborn screening laboratory. Cord blood shall not be accepted.

5. The person in charge of the health care facility or the designated representative shall ensure that all information requested on the form within the specimen collection kit is completed.

6. If the newborn is transferred to another health care facility before 3 days of age, the receiving health care facility shall be responsible for obtaining the specimen for newborn screening.

7. If the initial screening specimen for any newborn was collected within 24 hours of birth, the health care facility and the health care provider shall inform the newborn's parents that a second screen is required at 3 to 7 days of age.

B. Births occurring outside a health care facility.

1. The health care provider shall order the tests or shall ensure that the tests are ordered.

2. If the initial screening sample for any newborn was collected within 24 hours of birth, the health care provider shall notify the newborn's parents that a second screen is required between 3 and 7 days of age.

3. If the birth is not attended by a health care provider with the authority to order the test, the person required by A.R.S. § 36-322(E)(3) or (4) to report the birth shall notify the local or state registrar when the certificate of live birth is filed. The registrar shall notify the health officer in the county where the newborn's parents are expected to reside. The health officer shall ensure collection of a specimen within three days from the time of notification of the birth.

4. The specimen shall be capillary or venous blood and shall be collected utilizing a specimen collection kit obtained from the newborn screening laboratory. Cord blood shall not be accepted.

R9-14-504. Parent or Guardian Education

A. The health care provider or designee shall inform the newborn's parent or guardian of the reasons for the tests.

B. The health care facility shall be responsible for distributing written educational materials on newborn screening provided by the Department.

R9-14-505. Screening Fees; Collection

The following fees shall be charged for newborn screening:

1. The fee shall be $20.00 for an initial test.

2. The fee shall be $15.00 for a second screen.

B. There shall be no fee charged for a repeat test or for an unsatisfactory specimen.

APPENDIX G

CHILDREN’S REHABILITATIVE SERVICES