5 Colo. Code Regs. § 1005-4-2

Current through Register Vol. 47, No. 10, May 30, 2024

Section 5 CCR 1005-4-2 - NEWBORN SCREENING REQUIREMENTS FOR NAMED SUBMITTERS

2.1. Hygienic Collection Conditions

Work areas used to collect specimens will be clean and sanitary. Individuals collecting specimens will follow hygienic practices including handwashing.

2.2 Specimen Collection, Handling, and Submission

2.2.1 Births in birthing facilities: the blood specimens of newborns born in birthing facilities and all other specimens taken in conformity with the law and these regulations will be sent to the Laboratory for testing. Pursuant to Section 25-4-1004(1)(b), C.R.S., the birthing facility where the infant is born shall forward all specimens to the Laboratory.

Pursuant to Section 25-4-1004(2), C.R.S., the birthing facility where the newborn is born shall also be responsible for helping to connect infants who screen positive to follow-up services to include aiding in the collection of additional specimens for unsatisfactory specimens or specimens with equivocal results, as well as collection of additional specimens for resolution of time-sensitive and time-critical screen positive results, as necessary for proper diagnosis.

2.2.1.1 The birthing facility will obtain an initial newborn screening specimen from every newborn born therein.

2.2.1.2 The initial newborn screening specimen shall consist of capillary blood collected by heel puncture or alternate method authorized by the Laboratory, placed directly on special blotter paper furnished by the Laboratory.

The initial newborn screening specimen shall be collected from all newborns at 24 hours of age, but no later than 48 hours of age and always before the newborn is discharged from the birthing facility, unless exceptional circumstances exist.

Heel puncture sampling will occur in a manner that maintains the health and safety of the newborn and individual collecting the specimen; ensure proper labeling and preparation of the specimen for delivery; and allow for accurate test results and proper diagnosis.

All circles shall be saturated with blood from one side of the blotter only. The named submitter will provide, on the attached demographic slip, all information requested by the Laboratory.

The specimens shall be air dried horizontally for three to four hours. After air-drying, specimens shall be forwarded to the Laboratory within 24 hours of collection, by courier or overnight delivery if available. Specimens shall be submitted to the Laboratory in the form and manner required by the Department.

2.2.1.3 If the newborn is to receive a blood transfusion, then the specimen for newborn screening is to be obtained prior to this procedure. If an initial newborn screening specimen is collected after transfusion, the collection form will be marked appropriately to indicate transfusion occurred.

2.2.2 Births outside birthing facilities: the physician, registered midwife, or other health professional attending a birth outside a birthing facility, shall be responsible for the collection and forwarding of the specimen described in 2.2.1.2. In the absence of a health professional, any other person attending the birth, or in the absence of any person so attending, the parent(s) or legal guardian(s) of the newborn, or in the absence of or inability of the newborn's parent(s) or legal guardian(s), the person in charge of the premises where the birth occurred shall be responsible.

2.3. Care Coordination

The named submitter of an initial newborn screening specimen shall forward any newborn screening screen negative or screen positive results produced by the Laboratory pursuant to Rule 4 to the health care provider responsible for the newborn's care within seven days for any screen negative results, within 72 hours for any time-sensitive screen positive results and within 24 hours for any time-critical screen positive results.

2.4List of Conditions for Newborn Screening

The Laboratory shall conduct screening tests for the following conditions:

2.4.1 Phenylketonuria

2.4.2 Congenital Hypothyroidism

2.4.3 Hemoglobinopathies

2.4.4 Galactosemia

2.4.5 Cystic Fibrosis

2.4.6 Biotinidase Deficiency

2.4.7 Congenital Adrenal Hyperplasia

2.4.8 Medium Chain Acyl-CoA Dehydrogenase Deficiency

2.4.9 Very Long Chain Acyl-CoA Dehydrogenase Deficiency

2.4.10 Long-Chain L-3-Hydroxy Acyl-CoA Dehydrogenase Deficiency

2.4.11 Trifunctional Protein Deficiency

2.4.12 Carnitine Acyl-Carnitine Translocase Deficiency

2.4.13 Short Chain Acyl-CoA Dehydrogenase Deficiency

2.4.14 Carnitine Palmitoyltransferase II Deficiency

2.4.15 Glutaric Acidemia Type 2

2.4.16 Argininosuccinic Acidemia

2.4.17 Citrullinemia

2.4.18 Tyrosinemia

2.4.19 Hypermethioninemia

2.4.20 Maple Syrup Urine Disease

2.4.21 Homocystinuria

2.4.22 Isovaleric Acidemia

2.4.23 Glutaric Acidemia Type 1

2.4.24 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

2.4.25 Multiple Carboxylase Deficiency

2.4.26 3-Methylcrotonyl-CoA Carboxylase Deficiency

2.4.27 3-Methylglutaconic Aciduria

2.4.28 Methylmalonic Acidemias

2.4.29 Propionic Acidemia

2.4.30 Beta-Ketothiolase Deficiency

2.4.31 Carnitine Uptake Defect

2.4.32 Arginase Deficiency

2.4.33 Malonic Acidemia

2.4.34 Carnitine Palmitoyltransferase Deficiency 1a

2.4.35 Severe Combined Immunodeficiency

2.4.36 Spinal Muscular Atrophy due to homozygous deletion of exon 7 in Survival Motor Neuron 1 gene

2.4.37 Glycogen Storage Disease Type II (POMPE DISEASE)

2.4.38 Mucopolysaccharidosis Type 1 (MPS1)

2.4.39 X-Linked Adrenoleukodystrophy (X-ALD)

2.4.40 Mucopolysaccharidosis type 2 (MPS2)

2.4.41 Guanidinoacetate Methyltransferase Deficiency (GAMT)

2.4.42 Congenital Cytomegalovirus (cCMV) Screening of the following newborns:

2.4.42.1 All newborns who do not pass the initial hearing screen or who have not had a newborn hearing screen completed by day 10 of life, as determined by birth certificate or other testing facility records filed with the Department; and

2.4.42.2 All newborns for whom a medical provider has requested testing based on signs or symptoms related to hearing loss and/or cCMV; and

2.4.42.3 All newborns who meet the low birth weight standard as established by the Department.

5 CCR 1005-4-2

42 CR 02, January 25, 2019, effective 2/14/2019

42 CR 24, December 25, 2019, effective 1/14/2020

43 CR 14, July 25, 2020, effective 8/14/2020

44 CR 07, April 10, 2021, effective 5/15/2021

47 CR 08, April 25, 2024, effective 5/15/2024