I. AUTHORITY AND PURPOSE
These regulations are made under the Department of Health’s statutory responsibility and authority to develop an early case-finding program, in cooperation with the medical profession, concerning chronic diseases.
Newborn Screening Program
The Vermont Department of Health's program to assure that infants born in the state are tested for certain diseases and conditions for which early identification and treatment will prevent severe disability and/or death, and, for those affected, to assure timely initiation of treatment services.
Newborn Screening Test
A laboratory procedure capable of detecting the possible presence of one of the diseases specified in section III.A.
III. TESTING OF NEWBORNS
A. Diseases and conditions to be tested for are:
- 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
- 3-OH 3-CH3 glutaric aciduria (HMG)
- Argininosuccinic acidemia (ASA)
- Beta-ketothiolase deficiency (BKT)
- Biotinidase deficiency (BIOT)
- Carnitine uptake defect (CUD)
- Citrullinemia (CIT)
- Congenital adrenal hyperplasia (CAH)
- Congenital hypothyroidism (CH)
- Cystic fibrosis (CF)
- Galactosemia (Classical) (GALT)
- Glutaric acidemia type I (GA I)
- Hb S/Beta-thalassemia (Hb S/BTh)
- Hb S/C disease (Hb S/C)
- Hearing loss (HEAR)
- Homocystinuria (HCY)
- Isovaleric acidemia (IVA)
- Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
- Maple syrup urine disease (MSUD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Methylmalonic acidemia (Cbl A, B)
- Methylmalonic acidemia (mutase deficiency) (MUT)
- Multiple carboxylase deficiency (MCD)
- Phenylketonuria (PKU)
- Propionic acidemia (PROP)
- Sickle cell anemia (Hb SS disease) (SS)
- Trifunctional protein deficiency (TFP)
- Tyrosinemia type I (TYR I)
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
B. Screening tests shall be performed on newborn infants, except that after being informed of the reasons for and the costs of the tests, the parents, guardians, or custodians may refuse to have the tests performed. Documentation of such refusal shall be sent to the Vermont Department of Health, Vermont Newborn Screening Program.
The Department of Health shall collect a reasonable fee for the laboratory test performed pursuant to this regulation. Such fee shall be based on actual cost of performing the tests, assuring appropriate follow-up, and administering the program, and shall not exceed $95.00 per infant.
V. QUALITY ASSURANCE
The Department of Health will provide assistance to hospitals, health care providers, and parents in the implementation of the newborn screening program and will assure that the program operates according to current standards of practice as established by the American Academy of Pediatrics, the Centers for Disease Control and Prevention, and other such recognized experts in the field of newborn screening.
Regulations Effective March 1, 2008
Vermont Department of Health
Newborn Screening Program
108 Cherry Street
PO Box 70
Burlington, VT 05402