Oklahoma Administrative Code › Title 310 - Oklahoma State Department of Health › Chapter 550 - Newborn Screening and resources for trisomy 13, 18, and 21 › Subchapter 1 - Newborn Screening General Provisions › Section 310:550-1-2 - Definitions

Current through Vol. 41, No. 20, July 1, 2024
The following words or terms, when used in this Chapter,
				  shall have the following meaning, unless the context clearly indicates
				  otherwise:
"Amino Acid Disorders"
refers to a group of
				  inherited metabolic conditions in which the body is unable to metabolize or
				  process amino acids properly due to a defective enzyme function. This causes an
				  amino acid or protein build up in the body. If not treated early in life, these
				  defects can cause developmental disability or death. Each amino acid disorder
				  is associated with a specific enzyme deficiency. Treatment depends on the
				  specific amino acid disorder.
"Biotinidase Deficiency"
means an inherited
				  disease caused by the lack of an enzyme that recycles the B vitamin biotin,
				  which if not treated, may cause serious complications, including coma and
				  death.
"Birth Defects Registry"
means a registry
				  established by the Commissioner of Health to monitor and track birth defects
				  for all infants born in Oklahoma.
"Birthing Facility"
means a facility that
				  provides care during labor and delivery, and to the newborn. This includes a
				  unit of a hospital that is licensed and accredited to provide birthing
				  services, or a freestanding birthing center.
"Certified Laboratory"
refers to the Oklahoma
				  State Public Health Laboratory and/or a laboratory approved by the Oklahoma
				  State Department of Health to conduct newborn screening.
"CCHD Screening"
means the screening test for
				  the detection of critical congenital heart disease that is recommended by the
				  United States Department of Health and Human Services.
"CLIA '88"
means the Clinical Laboratory
				  Improvement Amendments of 1988,
				  public law
				  100-578. This amendment applies to the Federal Law
				  that governs laboratories that examine human specimens for the diagnosis,
				  prevention, or treatment of any disease or impairment, or the assessment of the
				  health of human beings.
"Confirmatory Testing"
means definitive
				  laboratory testing needed to confirm a diagnosis.
"Congenital Adrenal Hyperplasia"
or
"CAH"
means the most common form of CAH, 21-hydroxylase
				  deficiency. This genetic disorder is caused by the lack of an enzyme that the
				  adrenal gland uses to process hormones. Serious loss of body salt and water can
				  result in death. In girls the genitalia may appear as those of a male, and can
				  result in incorrect sex assignment. Hormone treatment is required for
				  life.
"Congenital Hypothyroidism"
means a disease
				  caused by a deficiency of thyroid hormone (thyroxine) production, which if not
				  treated, leads to developmental disabilities.
"Critical Congenital Heart Disease"
means a
				  congenital heart defect that places an infant at significant risk for
				  disability or death if not diagnosed soon after birth.
"Cystic Fibrosis"
means a multisystem genetic
				  disorder in which defective chloride transport across mucous membranes causes
				  dehydration of secretions. The result is a production of a thick, viscous
				  mucous that disrupts the normal function of the lungs, gut, and pancreas. This
				  leads to chronic lung infections, fatal lung disease, and problems with
				  digestion. Early detection and treatment can prevent malnutrition, and enhance
				  surveillance and treatment of lung infections.
"Days of Age"
means the age of a newborn in
				  24-hour periods so that a newborn is one day of age 24 hours following the hour
				  of birth for both blood spot screening and pulse oximetry screening.
"Department"
refers to the Oklahoma State
				  Department of Health.
"Discharge"
means release of the newborn from
				  care and custody of a perinatal licensed health facility to the parents or into
				  the community.
"Disorder"
means any condition detectable by
				  newborn screening that allows opportunities, not available without screening,
				  for early treatment and management to prevent developmental disability and/or
				  reduce infant morbidity and mortality.
"Echocardiogram"
means a test that uses
				  ultrasound to provide an image of the heart.
"Fatty Acid Oxidation Disorders"
refers to a
				  group of inherited metabolic conditions in which the body is unable to oxidize
				  (breakdown) fatty acids for energy due to a defective enzyme function. If not
				  treated early in life, this defect may cause developmental disability or
				  death.
"Galactosemia"
means an inherited disease caused
				  by the body's failure to break down galactose due to a defective enzyme
				  function, which if not treated early in life, may cause developmental
				  disability or death.
"Hemoglobin"
means a protein in the red blood
				  cell that carries oxygen.
"Hemoglobinopathy"
means an inherited disorder
				  associated with structural abnormality of hemoglobin, anemia, and variable
				  impaired ability of the red blood cells to carry oxygen.
"Infant"
means a child 6 months of age and
				  younger.
"Infant's Physician"
means the licensed medical
				  or osteopathic physician listed by the submitter or the individual responsible
				  for the medical care of the infant after discharge from the birthing
				  facility.
"Initial Specimen"
means the first blood
				  specimen collected subsequent to birth, pursuant to these procedures.
"Long-term Follow-up"
means follow-up services
				  that begin with diagnosis and treatment and continues throughout the lifespan.
				  This includes parent education, networking, referral, and care
				  coordination.
"Medical Home"
means a Planned Health Care
				  Provider.
"Medium-chain acyl coenzyme A dehydrogenase
				  deficiency"
or
"MCAD"
means a genetic disorder of fatty
				  acid metabolism. This disorder can cause metabolic crisis when an infant/child
				  fasts. This crisis can lead to seizures, failure to breathe, cardiac arrest,
				  and death. Treatment is effective by preventing fasting.
"Mucopolysaccharidosis Type I"
or
"MPS
				  I"
means a condition in which individuals are missing an enzyme to break
				  down large sugar molecules. This disorder can impact many different organs and
				  tissue leading to developmental delays if not identified and treated
				  early.
"Newborn"
means an infant thirty (30) days of
				  age and younger.
"Newborn Screening"
means the use of various
				  laboratory and clinical tests to screen infants for certain inherited disorders
				  where a potential net benefit and availability of effective treatments have
				  been demonstrated.
"Newborn Screening Form Kit"
or
"Form
				  Kit"
means a filter paper approved by the Department for collection of
				  the newborn screening specimen and associated demographic data.
"Newborn Screening Laboratory"
means a
				  laboratory operated by the Department or a laboratory certified by the
				  Department to conduct the tests and carry out the follow-up required by these
				  procedures.
"Newborn Screening Program"
or
"The
				  Program"
refers to the Public Health Laboratory and Short-term Follow-up
				  Program at the Department.
"Newborn Screening Program Coordinator"
refers
				  to the coordinator of the Short-term Follow-up Program at the
				  Department.
"Organic Acid Disorders"
refers to a group of
				  inherited metabolic conditions in which the body is unable to metabolize or
				  process organic acids properly due to a specific enzyme deficiency, which if
				  not treated early in life, may cause developmental disability and death.
"Pediatric Subspecialist"
means a physician
				  licensed in Oklahoma, board certified in pediatrics and a pediatric
				  subspecialty.
"Phenylketonuria" or "PKU"
means an inherited
				  disease caused by the body's failure to convert the amino acid phenylalanine to
				  tyrosine due to defective enzyme function, which if not treated early in life,
				  causes developmental disability.
"Planned Health Care Provider"
or
"Medical
				  Home"
means the health care provider who will be providing health care
				  for the infant after discharge from the hospital.
"Pompe"
or
"Pompe Disease"
means a
				  condition in which individuals are missing an enzyme to break down complex
				  sugar molecules. This disorder can lead to muscle weakness, poor muscle tone
				  and heart defects if not identified and treated early.
"Premature Newborn"
means a newborn weighing
				  less than 2500 grams or any live birth before the thirty-seventh week of
				  gestation.
"Pulse Oximetry Screening"
means a test using a
				  device placed on an extremity to measure the percentage of oxygen in the
				  blood.
"Repeat Specimen"
means an additional newborn
				  screening specimen to be collected after the initial specimen.
"Satisfactory Specimen"
means a blood specimen
				  collected using a single Form Kit that is suitable in both quantity and quality
				  to perform newborn screening for the disorders approved by the Commissioner of
				  Health and listed in
				  310:550-1-1. Federal CLIA '88
				  regulations require that the Form Kit includes the patient's name, date of
				  birth, sex, date of collection, test(s) to be performed, and complete name and
				  address of person requesting the test.
"Screened"
means a specimen that has been
				  collected and tested on an infant less than 6 months of age.
"Screening"
means a test to sort out well
				  persons who may have a disease or defect from those who may not. A screening
				  test is not intended to be diagnostic.
"Severe Combined Immunodeficiency"
means a group
				  of potentially fatal inherited disorders related to the immune system, which if
				  not treated, can lead to potentially deadly infections.
"Short-term Follow-up"
includes services
				  provided by the Department and the health care provider that begin when the
				  laboratory reports an abnormal, unsatisfactory screen result, or a result is
				  not reported due to specific collection criteria, and ends with a diagnosis of
				  "normal", the infant is lost to follow-up (repeat testing not achieved), the
				  parent(s) or guardian(s) refuse follow-up, or the affected infant receives
				  appropriate treatment and referral to a pediatric subspecialist.
"Sick Newborn"
means a newborn with any
				  condition or episode marked by pronounced deviation from the normal healthy
				  state; illness.
"Sickle Cell Disease"
means an inherited disease
				  caused by abnormal hemoglobin(s)(hemoglobinopathy), which may cause anemia and
				  variable impaired ability of the red blood cells to carry oxygen, and if not
				  treated early in life, may result in severe illness, developmental disability
				  or death.
"Specimen"
means blood collected on the Newborn
				  Screening Form Kit.
"Spinal Muscular Atrophy"
or
"SMA"
means conditions in which the loss of specialized nerves cells leads to
				  progressive weakness and atrophy of muscles, and developmental disability. In
				  severe cases, the muscles used for breathing and swallowing may be
				  affected.
"Submitter"
means a hospital, other facility, or
				  physician submitting a blood specimen on a Newborn Screening Form Kit.
"The Program"
means the Newborn Screening
				  Program in the Department.
"Transfer"
means release of the newborn or
				  infant from care and custody from one licensed health facility to
				  another.
"Unsatisfactory Specimen"
means a blood specimen
				  submitted on a Form Kit that is not suitable in quantity or quality to perform
				  screening for the disorders approved by the Commissioner of Health and listed
				  in 310:550-1-1 and/or Federal CLIA
				  '88 regulations are not followed and the Form Kit does not include the required
				  patient's name, date of birth, sex, date of collection, test(s) to be
				  performed, and the provider ordering the newborn screen.
"X-Linked Adrenoleukodystrophy"
or
"X-ALD"
means a condition affecting the nervous system and adrenal
				  glands in which the ability of the nerves to relay information to the brain and
				  the adrenal glands to make certain hormones (adrenocortical insufficiency) are
				  impacted. Affected individuals may experience learning and developmental
				  disability, difficulty swallowing, muscle weakness, weight loss, skin changes,
				  vomiting, and coma.
Amended at 8 Ok Reg
				  3115, eff 7-12-91 (emergency); Amended at 9 Ok Reg 1475, eff 5-1-92; Amended at
				  12 Ok Reg 41, eff 10-5-94 (emergency); Amended at 12 Ok Reg 1685, eff 6-12-95;
				  Amended at 15 Ok Reg 121, eff 10-15-97 (emergency); Amended at 15 Ok Reg 1979,
				  eff 5-26-98; Amended at 21 Ok Reg 1286, eff 5-27-04; Amended at 25 Ok Reg 105,
				  eff 10-2-07 (emergency); Amended at 25 Ok Reg 1153, eff
				  5-25-08