Code of Maryland Regulations
Title 10 - MARYLAND DEPARTMENT OF HEALTH
Part 3
Subtitle 10 - LABORATORIES
Chapter 10.10.13 - Medical Laboratories - Testing for Hereditary and Congenital Disorders in Newborn Infants
Section 10.10.13.03 - Definitions
Universal Citation: MD Code Reg 10.10.13.03
Current through Register Vol. 51, No. 19, September 20, 2024
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 Department of
Health and Mental Hygiene.
(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 Foliow-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 and Mental Hygiene 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.
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