Md. Code Regs. 10.52.12.03

Current through Register Vol. 51, No. 22, November 1, 2024

Section 10.52.12.03 - 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 Foliow-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 10.10.13.2IB and C.

Md. Code Regs. 10.52.12.03

Regulations .03 Newborn Screening, adopted as an emergency provision effective January 1, 2009 (36:2 Md. R. 97); adopted permanently effective March 23, 2009 (36:6 Md. R. 490); amended effective 43:5 Md. R. 385, eff.3/14/2016; amended effective 44:8 Md. R. 404, eff. 4/24/2017