Regulation .03 Definitions.
Regulation .03 Definitions.LinkCopy Citation
A.
In this chapter, the following terms have the meanings indicated.
B.
Terms Defined.
(1)
Birthing Facility.
(a)
“Birthing facility” means a facility that provides the antepartum, intrapartum, and postpartum management and care of women and their newborn infants.
(b)
“Birthing facility” includes a:
(i)
Birthing service that is licensed or accredited as a unit of a hospital; and
(ii)
Freestanding birthing center as defined in COMAR 10.05.02.01B.
(2)
Blood-Spot Specimen.
(a)
“Blood-spot specimen” means a whole-blood specimen collected from a newborn infant’s heel and applied to the designated area on a blood-spot specimen collection test requisition card for the purpose of performing screening tests.
(b)
“Blood-spot specimen” includes:
(i)
The first screening blood-spot specimen collected from a newborn infant, usually in the birthing facility or other place where the newborn infant was born, within 48 hours after the newborn infant’s birth;
(ii)
The second screening blood-spot specimen collected from a newborn infant, usually collected when the newborn infant is between 10 and 14 days of age; and
(iii)
A blood-spot specimen collected subsequent to a specimen specified in §B(2)(b)(i) and (ii) of this regulation as required to meet the medical needs and condition of the newborn infant and any additional specific screening blood-spot specimen collection and screening test requirements of this chapter and COMAR 10.10.13.
(3)
Congenital Disorder.
(a)
“Congenital disorder” means a significant structural or functional abnormality of the body that is present at birth.
(b)
“Congenital disorder” does not include a condition that results from:
(i)
An intrauterine infection; or
(ii)
A birth injury.
(4)
“Council” means the State Advisory Council on Hereditary and Congenital Disorders.
(5)
“Courier” means an entity employed by a person to convey a blood-spot specimen from the site of blood-spot specimen collection to the laboratory where the blood-spot specimen will be tested.
(6)
“Department” means the Maryland Department of Health.
(7)
“Diagnostic test” means a test that is used to establish or confirm the presence of a:
(a)
Specific disease; or
(b)
Hereditary or congenital disorder.
(8)
“First screening” means a screening performed on the first blood-spot specimen collected from a newborn infant after birth.
(9)
“First-tier test” means a blood test performed on a newborn infant's blood that:
(a)
Indicates the probable presence or absence of a hereditary or congenital disorder; or
(b)
Identifies a newborn infant who is at increased risk for a hereditary or congenital disorder.
(10)
“Follow-Up Unit” means the follow-up component and staff of the Department’s Newborn Screening Program, which carries out the duties set forth in Regulation .12 of this chapter.
(11)
Hereditary Disorder.
(a)
“Hereditary disorder” means a disorder that:
(i)
Is transmissible through the genetic material deoxyribonucleic acid (DNA); or
(ii)
Arises through the improper processing of information in the genetic material.
(b)
“Hereditary disorder” includes:
(i)
Hemoglobin disorders;
(ii)
Metabolic disorders; and
(iii)
Endocrine disorders.
(12)
“Home birth” means the birth of an infant which occurs intentionally outside of a birthing facility.
(13)
“Home birth attendant” means a physician who is licensed to practice under Health Occupations Article, Title 14, Annotated Code of Maryland, a nurse midwife who is licensed and certified to practice under Health Occupations Article, Title 8, Annotated Code of Maryland, or a direct-entry midwife who is licensed under Health Occupations Article, Title 8, Subtitle 6C, Annotated Code of Maryland, who is caring for the mother and infant at delivery during a home birth as defined in §B(12) of this regulation.
(14)
“Metabolic disorder” means a disorder caused by a genetic alteration that results in a defect in the function of a specific enzyme, hormone, or protein, which can be detected by:
(a)
Direct analysis of the enzyme, hormone, or protein; or
(b)
Testing for a substance whose metabolism is altered as a result of the defect.
(15)
“Milk feeding” means feedings received for 24 hours by:
(a)
A healthy newborn infant on a diet of milk; and
(b)
An ill or premature newborn infant on parenteral feedings providing a minimum of 1 gram of protein per kilogram of body weight per day and 75 kilocalories per kilogram of body weight per day.
(16)
“Newborn” or “newborn infant” means an infant:
(a)
Born in Maryland;
(b)
Born on federal property within Maryland;
(c)
Born outside of Maryland to parents whose residence is in Maryland;
(d)
From whom a blood-spot specimen was collected and submitted to the State’s public health laboratory for newborn screening by a birthing facility or other health care provider located in Maryland, regardless of the infant’s place of birth;
(e)
Who has a screening test requested by the Follow-Up Unit:
(i)
For first-tier screening follow-up;
(ii)
For confirmation of a previous screening test result; or
(iii)
To assist with the infant's diagnosis, therapy, or follow-up care; or
(f)
Who is in Maryland.
(17)
Newborn Screening or Screening.
(a)
“Newborn screening” or “screening” means one or more first-tier tests.
(b)
“Newborn screening” or “screening” includes:
(i)
First-tier testing on a first, second, or subsequent blood-spot specimen; and
(ii)
Supplemental first-tier testing.
(18)
Newborn Screening Program.
(a)
“Newborn Screening Program” means the Department's screening program for hereditary and congenital disorders, which performs operations and activities necessary to ensure that:
(i)
Newborn infants are given the opportunity to be tested;
(ii)
At risk newborn infants who are tested are identified and located;
(iii)
Newborn infants are given access to necessary follow-up testing;
(iv)
Diagnostic tests are available and the diagnosis is made or ruled out; and
(v)
Newborn infants diagnosed with a hereditary or congenital disorder are given access to treatment.
(b)
“Newborn Screening Program” includes:
(i)
The Department's public health laboratory as the sole screening laboratory;
(ii)
Another state's public health laboratory or a commercial laboratory that may serve the State as a screening laboratory during an emergency under a formal Departmental mutual aid agreement;
(iii)
Supplemental and second-tier testing performed by a state public health laboratory or by a licensed commercial or research laboratory;
(iv)
The Follow-Up Unit; and
(v)
The State Advisory Council on Hereditary and Congenital Disorders.
(19)
“Second screening” means a test performed on a routine second blood-spot specimen collected when the newborn infant is between 10 and 14 days old even though the test results from the newborn’s first blood-spot specimen were normal.
(20)
Second-Tier Test.
(a)
“Second-tier test” means a test performed on a newborn screening blood-spot specimen when a first-tier test provides an abnormal screening test result or a borderline abnormal screening test result.
(b)
“Second-tier test” includes a test that:
(i)
Establishes or confirms a newborn infant's risk for a hereditary or congenital disorder;
(ii)
Separates a newborn infant into a lower or higher risk category for a hereditary or congenital disorder; or
(iii)
Is diagnostic because it confirms the presence of a hereditary or congenital disorder.
(21)
“Supplemental test” means a test performed on a blood-spot specimen collected from a newborn infant that is:
(a)
Used to detect a hereditary or congenital disorder not specified in Regulation .05 of this chapter; or
(b)
Not required to be performed by the Department's public health laboratory under this chapter or COMAR 10.10.13.
(22)
“Unsatisfactory blood-spot specimen” means a blood-spot specimen that may produce an inaccurate or unreliable test result because the blood-spot specimen exhibits one of the problems of collection as specified in COMAR 10.10.13.21B and C.