.03 Definitions.

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.