This chapter and COMAR 10.10.13 establish a coordinated Statewide system for: Laboratory screening of newborn infants in the State for certain hereditary and congenital disorders associated with severe problems of health or development; and Follow-up services to those infants with abnormal screening results. This chapter identifies standards and requirements for the Department, birthing facilities, and persons participating in one or more aspects of Maryland's Newborn Screening Program for hereditary and congenital disorders. In this chapter, the following terms have the meanings indicated. Terms Defined. Birthing Facility. “Birthing facility” means a facility that provides the antepartum, intrapartum, and postpartum management and care of women and their newborn infants. “Birthing facility” includes a: Birthing service that is licensed or accredited as a unit of a hospital; and Freestanding birthing center as defined in COMAR 10.05.02.01B. Blood-Spot Specimen. “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. “Blood-spot specimen” includes: 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; 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 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. Congenital Disorder. “Congenital disorder” means a significant structural or functional abnormality of the body that is present at birth. “Congenital disorder” does not include a condition that results from: An intrauterine infection; or A birth injury. “Council” means the State Advisory Council on Hereditary and Congenital Disorders. “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. “Department” means the Maryland Department of Health. “Diagnostic test” means a test that is used to establish or confirm the presence of a: Specific disease; or Hereditary or congenital disorder. “First screening” means a screening performed on the first blood-spot specimen collected from a newborn infant after birth. “First-tier test” means a blood test performed on a newborn infant's blood that: Indicates the probable presence or absence of a hereditary or congenital disorder; or Identifies a newborn infant who is at increased risk for a hereditary or congenital disorder. “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. Hereditary Disorder. “Hereditary disorder” means a disorder that: Is transmissible through the genetic material deoxyribonucleic acid (DNA); or Arises through the improper processing of information in the genetic material. “Hereditary disorder” includes: Hemoglobin disorders; Metabolic disorders; and Endocrine disorders. “Home birth” means the birth of an infant which occurs intentionally outside of a birthing facility. “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. “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: Direct analysis of the enzyme, hormone, or protein; or Testing for a substance whose metabolism is altered as a result of the defect. “Milk feeding” means feedings received for 24 hours by: A healthy newborn infant on a diet of milk; and 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. “Newborn” or “newborn infant” means an infant: Born in Maryland; Born on federal property within Maryland; Born outside of Maryland to parents whose residence is in Maryland; 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; Who has a screening test requested by the Follow-Up Unit: For first-tier screening follow-up; For confirmation of a previous screening test result; or To assist with the infant's diagnosis, therapy, or follow-up care; or Who is in Maryland. Newborn Screening or Screening. “Newborn screening” or “screening” means one or more first-tier tests. “Newborn screening” or “screening” includes: First-tier testing on a first, second, or subsequent blood-spot specimen; and Supplemental first-tier testing. Newborn Screening Program. “Newborn Screening Program” means the Department's screening program for hereditary and congenital disorders, which performs operations and activities necessary to ensure that: Newborn infants are given the opportunity to be tested; At risk newborn infants who are tested are identified and located; Newborn infants are given access to necessary follow-up testing; Diagnostic tests are available and the diagnosis is made or ruled out; and Newborn infants diagnosed with a hereditary or congenital disorder are given access to treatment. “Newborn Screening Program” includes: The Department's public health laboratory as the sole screening laboratory; 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; Supplemental and second-tier testing performed by a state public health laboratory or by a licensed commercial or research laboratory; The Follow-Up Unit; and The State Advisory Council on Hereditary and Congenital Disorders. “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. Second-Tier Test. “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. “Second-tier test” includes a test that: Establishes or confirms a newborn infant's risk for a hereditary or congenital disorder; Separates a newborn infant into a lower or higher risk category for a hereditary or congenital disorder; or Is diagnostic because it confirms the presence of a hereditary or congenital disorder. “Supplemental test” means a test performed on a blood-spot specimen collected from a newborn infant that is: Used to detect a hereditary or congenital disorder not specified in Regulation .05 of this chapter; or Not required to be performed by the Department's public health laboratory under this chapter or COMAR 10.10.13. “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. Program Maintenance. The Department shall operate a Newborn Screening Program to identify congenital and hereditary disorders and provide follow-up services to newborn infants. Laboratory Oversight. The Department shall ensure that a laboratory holding a permit to offer or perform first-tier, supplemental, or second-tier tests to identify congenital and hereditary disorders in newborn infants is subjected to regulatory oversight that includes surveys and proficiency testing as set forth in: COMAR 10.10.02; and COMAR 10.10.05. Notification. The Department shall notify the parents and guardians of newborn infants that laboratories other than the Department’s public health laboratory may perform post screening confirmatory or diagnostic tests on newborn infants for hereditary and congenital disorders. The Department, with the advice of the Council, shall select the disorders for which screening is required by the Newborn Screening Program. The selected disorders are: Biotinidase deficiency; Congenital adrenal hyperplasia (CAH); Hypothyroidism; Galactosemia, galactose-1-phosphate uridyl transferase deficiency (GALT); Epimerase Galactosemia, uridine diphosphate-galactose-4-epimerase deficiency (GALE); Galactokinase Galactosemia, galactokinase deficiency (GALK1); Sickle cell disease; Sickle cell disease: S beta-thalessemia; Sickle C disease: SC disease; Other hemoglobin variants; Phenylketonuria (PKU); Hyperphenylalaninemia (Hyper-PHE); Biopterin cofactor biosynthesis defects (BIOPT-BS); Biopterin cofactor regeneration defects (BIOPT-REG); Tyrosinemia, type I; Tyrosinemia, type II; Tyrosinemia, type III; Homocystinuria; Hypermethioninemia; Branched chain ketoaciduria (BCK), also called maple syrup urine disease (MSUD); Citrullinemia, type I; Citrullinemia, type II; Arginosuccinic aciduria; Argininemia; Methylmalonic acidemia, mutase deficiency (MMA); Methylmalonic acidemia, adenosylcobalamin synthesis defects A and B (Cbl A, B); Methylmalonic acidemia, adenosylcobalamin synthesis defects C and D (Cbl C, D); Propionic acidemia (PA); Isovaleric acidemia (IVA); Glutaric aciduria type I (GA I); 3-Hydroxy-3-methylglutaryl-CoA (HMG) lysase deficiency; Isobutryl-CoA dehydrogenase (IBCD) deficiency; 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG); 3-Methlycrotonyl-CoA carboxylase deficiency (3MCC); 3-Methlyglutaconyl-CoA hydratase deficiency (3MGA); 2-Methyl-3-hydroxybutyrl-CoA dehydrogenase deficiency (2M3HBA); Mitochondrial acetoacetyl-CoA thiolase (3-ketothiolase) deficiency (BKT); Multiple carboxylase deficiency (MCD); Malonic acidemia (MAL); Medium chain acyl-CoA dehydrogenase deficiency (MCAD); Medium chain ketoacyl-CoA thiolase deficiency (MCKAT); Short chain acyl-CoA dehydrogenase deficiency (SCAD); Short chain 3-hydroxy acyl Co-A dehydrogenase deficiency (SCHAD); Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) 3-hydroxy long chain acyl-CoA dehydrogenase deficiency (LCHAD); Multiple acyl-CoA dehydrogenase (MAD) or glutaric acidemia type II deficiency (GA II); Carnitine/acylcarnitine translocase deficiency (translocase deficiency); Carnitine palmitoyl transferase type I deficiency (CPT I); Carnitine palmitoyl transferase type II deficiency (CPT II); Carnitine uptake disorder; Trifunctional protein deficiency (TFP); 2,4-dienoyl-CoA reductase deficiency (DE RED); Cystic fibrosis; Severe combined immunodeficiency (SCID); Pompe disease; Fabry disease; Spinal muscular atrophy (SMA); Mucopolysaccharidosis type I (MPS I); Mucopolysaccharidosis Type II (MPS II); X-linked Adrenoleukodystrophy (X-ALD); Guanidinoacetate Methyltransferase Deficiency (GAMT); and Infantile Krabbe Disease. Supplemental Tests. The State’s Newborn Screening Program may not request or perform a supplemental test until the public health laboratory has confirmed there is sufficient blood-spot specimen to test for the required panel of disorders set forth in §B of this regulation. Before a blood-spot specimen is sent for newborn screening, a health care provider or the individual’s designated representative shall provide to the newborn infant’s parent or guardian an explanation of newborn screening that includes: Reasons for newborn screening, including the; Purpose of the testing; and Nature and consequences of being affected by a hereditary or congenital disorder or being a carrier of a hereditary or congenital disorder; and A parent or guardian's right to object to having the testing performed, including: Stating that newborn screening is wholly voluntary; Explaining any risk involved in having newborn screening performed; and Providing a reasonable opportunity to object to screening. The individual in charge of a birthing facility or the individual’s designated representative, or the home birth attendant shall: If the parent or guardian of the newborn infant does not object to newborn screening: Collect a blood-spot specimen: As set forth in: Sections C and D of this regulation; and COMAR 10.10.13.13; and Pursuant to the procedures established in COMAR 10.10.13.14A; and Submit the collected blood-spot specimen to the Department’s public health laboratory; When a parent or guardian objects to newborn screening: Have the parent or guardian sign a form that states the parent or guardian objects to newborn screening; and Inform the Follow-Up Unit by telephone, fax, or email of the objection within 12 hours after the objection; For full-term healthy newborn infants: Collect a blood-spot specimen to test for the disorders set forth in Regulation .05 of this chapter not sooner than 24 hours after the onset of milk feeding, regardless of whether the newborn is breast-fed or formula-fed; and If the newborn infant is discharged before 24 hours after the onset of milk feeding, collect the blood-spot specimen as late as practical before the newborn infant is discharged from the birthing facility; and For a newborn infant born prematurely or expected to be ill for longer than 14 days, if the newborn infant’s medical condition permits, collect: A blood-spot specimen for the newborn screening test upon admission, before the administration of blood products or antibiotics; A subsequent blood-spot specimen 48 to 72 hours after birth, regardless of milk feeding status; A subsequent blood-spot specimen by 10 days of age when milk feeding is established or the infant has been receiving additional protein through intravenous fluids; and An additional subsequent blood-spot specimen at one month of age or at discharge, whichever comes first. A health care provider shall have a blood-spot specimen collected for a second screening for the disorders set forth in Regulation .05 of this chapter when the newborn is between 10 and 14 days old. A birthing facility representative, physician, or other health care provider or, in the case when a birth occurs outside a birthing facility, the individual required to prepare and file the certificate of birth, shall send newborn screening blood-spot specimens only to the Department’s public health laboratory for the performance of newborn screening, as set forth in COMAR 10.10.13.14B. The individual responsible for collecting and submitting a blood-spot specimen for a newborn screening test shall ensure that blood-spot specimens are forwarded by courier to the Department’s public health laboratory within 24 hours after collection. Normal Screening Results. The Department’s public health laboratory shall report normal newborn screening test results to the submitter of the blood-spot specimen within 3 business days after receipt of the blood-spot specimen. A birthing facility representative, health care provider, or the individual who is responsible for filing the certificate of birth if the birth occurs outside a birthing facility, or other submitter of the blood-spot specimen shall: Enter the results in the newborn infant's medical record; and Make the results available to the parent, guardian, or primary care providers upon request. Abnormal Screening Results. The Department’s public health laboratory shall immediately report abnormal newborn screening test results to the Follow-Up Unit. The Department’s public health laboratory shall report to the Follow-Up Unit all known demographic and clinical data on the newborn infant in an electronic format compatible with the Department’s information system databases operated by the Department’s public health laboratory, as set forth at COMAR 10.10.13.25. The Follow-Up Unit shall enter results in the Department’s database and initiate follow-up procedures as specified in Regulation .12 of this chapter. The submitter of the blood-spot specimen shall: Enter the results in the newborn infant's medical record; and Make the abnormal results available immediately to the newborn's parent, guardian, or primary care providers. The individual in charge of a birthing facility or the individual’s designated representative, or the home birth attendant shall: Develop collection and transport procedures to ensure against collecting and submitting unsatisfactory blood-spot specimens for each of the categories of newborn infant listed in §B of this regulation. Collect or otherwise have collected: An additional blood-spot specimen before the newborn is 7 days old for newborn infants discharged before 24 hours of milk feeding in addition to the blood-spot specimen collected before discharge, as set forth in Regulation .07C(2) of this chapter. The blood-spot specimen before the newborn is 7 days old if a newborn infant is discharged from a birthing facility before a newborn screening blood-spot specimen is collected. An additional blood-spot specimen within 7 days after notification if the laboratory reports to a birthing facility or a home birth attendant that the initial blood-spot specimen was unsatisfactory. A blood-spot specimen to be tested for hemoglobins, biotinidase, and galastose -1 phosphate uridyl transferase (GALT) only, four months after the last transfusion if the initial blood-spot specimen was not collected until after the infant was transfused. Department's Responsibilities. The Follow-Up Unit shall investigate each abnormal result indicative of increased risk for a hereditary or congenital disorder by contacting the infant’s health care provider, or other appropriate individual to notify the parent or guardian, or if the health care provider cannot be contacted, by contacting the infant’s parent or guardian directly regarding: Results of first-tier, supplemental, and second-tier tests; The importance of identifying and locating a newborn infant with test results indicative of increased risk for an hereditary or congenital disorder; The urgent need for follow-up; and The need to share newborn screening information between hospitals, healthcare providers, treatment centers, and laboratory personnel. If the parent or guardian fails to respond to the birthing facility, health care provider, or other responsible individual acting as set forth in §B(1) of this regulation, the individual in charge of the birthing facility or the individual’s designated representative, health care provider, or other responsible individual shall notify the Follow-Up Unit, which shall then try to notify the parent or guardian of the need for follow-up by using at least one of the following means, in the indicated order of priority: Telephone; Certified mail, if medically appropriate; Public health nurse visit; or Law enforcement contact. The Follow-Up Unit shall provide recommendations to the responsible birthing facility, health care provider, and the parent or guardian, as appropriate, regarding the appropriate follow-up and diagnostic evaluation of the newborn infant. The Follow-Up Unit shall recommend: Sources of diagnostic evaluation, specialty care, and treatment; and That no treatment be administered to the newborn infant until the results of the follow-up evaluation have established that the infant has a hereditary or congenital disorder. The Follow-Up Unit shall inform health care personnel and parents or guardians of: The nature, cost, benefits, and risks of any therapy; and The availability of any programs to assist individuals affected by a hereditary or congenital disorder. Responsibilities of the Birthing Facility or Health Care Provider. The individual in charge of the birthing facility or individual’s designated representative or health care provider shall: Evaluate the infant for signs, symptoms, and biochemical evidence of a hereditary or congenital disorder; Refer the newborn infant for further evaluation: To the appropriate specialists; and For the appropriate diagnostic tests; Collect and submit any required blood-spot specimens for repeat screening or diagnostic testing; and Report the results of diagnostic testing to the Follow-Up Unit. The screening of newborn infants pursuant to this chapter is a population based public health surveillance program. On request, a laboratory or health care provider shall make available to the Follow-Up Unit medical records, records of laboratory tests, and any other medical information the Follow-Up Unit considers necessary to: Screen a newborn infant for hereditary and congenital disorders set forth in Regulation .05 of this chapter; Carry out the State's Newborn Screening Program, including: Contacting the families and primary health care providers of newborn infants with newborn screening test results indicating a high risk of having a hereditary or congenital disorder; Providing recommendations regarding the appropriate follow-up and diagnostic evaluation of the newborn infant; Determining what follow-up evaluations and diagnostic tests were performed and on what date the evaluations and tests were performed; Determining if and on what date a diagnosis of a specific hereditary or congenital disorder in a newborn infant was made; and Determining if and on what date treatment and follow-up care have been initiated; and Ensure compliance with the pertinent regulations set forth in this chapter and in COMAR 10.10.13. Information that the Department receives under this chapter is confidential and may only be used or disclosed: To provide services to the newborn infant and the infant's family; To study the relationships of the various factors determining the frequency and distribution of the disorders set forth in Regulation .05 of this chapter; For State or federally mandated statistical reports; and To ensure that the information received by the Department is accurate and reliable. Health-General Article, §§13-109, 13-111, and 13-601—13-605, Annotated Code of Maryland Effective date: December 24, 1975 (2:29 Md. R. 1738) Chapter revised and recodified from COMAR 10.39.01, Testing for Hereditary Metabolic Disorders in the Newborn Child, to COMAR 10.52.12, Screening for Treatable Disorders in the Newborn Child, effective November 20, 1994 (21:23 Md. R. 1934) Regulations .01— .12, Screening for Treatable Disorders in the Newborn Child, repealed and new Regulations .01— .15, 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) Regulation .03B amended effective March 14, 2016 (43:5 Md. R. 385) Regulation .07E amended effective March 14, 2016 (43:5 Md. R. 385) Regulation .08B amended effective March 14, 2016 (43:5 Md. R. 385) Chapter revised effective April 24, 2017 (44:8 Md. R. 404) Regulation .05B amended effective August 23, 2021 (48:17 Md. R. 669); April 14, 2025 (52:7 Md. R. 321); May 25, 2026 (53:10 Md. R. 454)