Sec. 10.10.13.03. Definitions

A. In this chapter, the following terms have the meanings indicated.

B. Terms Defined.

(1) "Abnormal test result" means a first-tier, supplemental, or second-tier test result that:

(a) Falls outside the normal range for the analyte measured; and

(b) Triggers a request for additional testing or is diagnostic for a disorder.

(2) Allele.

(a) "Allele" means any one of a series of two or more different forms of a gene or DNA sequence that can exist at a single locus on a chromosome.

(b) "Allele" includes the gene or DNA sequence for hemoglobin traits and disease states, such as hemoglobin S (HbS) for sickle cell disease.

(3) "Analyte" means the substance or chemical constituent in blood being measured in a screening test used to detect the disorders listed in Regulation .12C of this chapter.

(4) 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.

(5) 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 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 blood-spot specimen specified in §B(5)(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 10.52.12.

(6) "Borderline result" means a screening test result that is at or near the established cut-off level for a particular analyte.

(7) "CLIA" means the federal Clinical Laboratory Improvement Amendments of 1988.

(8) 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.

(9) "Council" means the State Advisory Council on Hereditary and Congenital Disorders.

(10) “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.

(11) "Cut-off level" means a pre-determined, measurable value established for an analyte detected by a screening test, where that value is used to determine when a newborn infant's test result is normal, borderline, or abnormal.

(12) "Department" means the Maryland Department of Health.

(13) "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.

(14) “First screening” means a screening performed on the first blood-spot specimen collected from a newborn infant after birth.

(15) “First–tier test” means a blood test performed on a newborn infant’s blood-spot specimen 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.

(16) “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 COMAR 10.52.12.12.

(17) 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.

(18) “Home birth” means the birth of an infant which occurs intentionally outside of a birthing facility.

(19) “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 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(18) of this regulation.

(20) "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.

(21) "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 Department’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 a newborn infant's diagnosis, therapy, or follow-up care; or

(f) Who is in Maryland.

(22) 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.

(23) 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 Departmental mutual aid agreement;

(iii) Supplemental and second-tier testing performed by a state public health laboratory or by a permitted commercial or research laboratory;

(iv) The Follow-Up Unit; and

(v) The State Advisory Council on Hereditary and Congenital Disorders.

(24) "Normal limit" means a measurable, numerical value or range that is considered not to indicate or establish the presence of a hereditary or congenital disorder.

(25) "Permittee" means a person issued a permit by the Secretary to operate a medical laboratory as defined in COMAR 10.10.01.03B.

(26) "Public health laboratory" means:

(a) The Department's public health laboratory; and

(b) Another state's public health laboratory or a commercial laboratory permitted in Maryland that is approved under a Departmental emergency mutual aid agreement to perform newborn screening tests on Maryland newborns.

(27) Quality Assessment Plan.

(a) "Quality assessment plan" means a planned system of step-by-step activities to ensure that:

(i) Testing is carried out according to the manufacturer's instructions;

(ii) Testing results are accurate and reliable;

(iii) Testing problems and errors are found and corrected to avoid adverse health outcomes for newborn infants; and

(iv) Testing results are reported and communicated in a timely manner as required by this chapter.

(b) "Quality assessment plan" includes the ongoing activities that monitor, review, evaluate, and improve the overall quality of the procedures and processes before, during, and after a test is performed.

(28) "Quality control" has the meaning stated in COMAR 10.10.06.03B.

(29) Screening Test.

(a) "Screening test" means a first-tier test used to detect a hereditary or congenital disorder listed in Regulation .12 of this chapter.

(b) “Screening test” includes a test performed on a:

(i) First screening blood-spot specimen;

(ii) Second screening blood-spot specimen; or

(iii) Subsequent screening blood-spot specimen.

(c) "Screening test" does not include a:

(i) Diagnostic test; or

(ii) Second-tier test.

(30) “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.

(31) 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.

(32) "Secretary" means the Secretary of Health or the Secretary's designee.

(33) “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 .12C of this chapter; or

(b) Not required to be performed by the Department's public health laboratory under this chapter or COMAR 10.52.12.

(34) “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 Regulation .21B and C of this chapter.