216 R.I. Code R. 216-RICR-20-05-1.3

Current through December 26, 2024

Section 216-RICR-20-05-1.3 - Newborn Genetic, Metabolic, Endocrine, and Hemoglobinopathy Screening Program

A. The physician and/or midwife attending a newborn child shall cause said child to be subject to screening tests for the conditions listed below. Notwithstanding the foregoing, if parents of a newborn child object to the screening tests on the grounds that such tests conflict with their religious tenets and practices, such tests shall not be performed, in accordance with R.I. Gen. Laws § 23-13-14.

1. Amino Acid Metabolism Disorders

a. Argininosuccinic Acidemia

b. Citrullinemia

c. Homocystinuria

d. Maple Syrup Urine Disease

e. Phenylketonuria

f. Tyrosinemia Type I

2. Organic Acid Metabolism Disorders

a. Beta-Ketothiolase Deficiency

b. Glutaric Acidemia Type I

c. Hydroxymethylglutaric aciduria, HMG-CoA lyase Deficiency, or 3-OH 3-CH3 glutaric aciduria

d. Isovaleric Acidemia

e. 3-Methylcrotonyl-CoA Carboxylase Deficiency

f. Methylmalonic Acidemia cbIA and cbIB forms

g. Methylmalonic Acidemia due to mutase deficiency

h. Multiple Carboxylase Deficiency

i. Propionic Acidemia

3. Fatty Acid Oxidation Disorders

a. Carnitine Uptake Defect

b. Long-chain 3-OH acyl COA Dehydrogenase Deficiency (LCHAD)

c. Medium-chain 3-OH acyl COA Dehydrogenase Deficiency (MCHAD)

d. Very Long-chain 3-OH acyl COA Dehydrogenase Deficiency (VLCAD)

e. Trifunctional Protein Deficiency

4. Hemoglobin Traits and Disorders

a. Sickle Cell Anemia

b. Hemoglobin S/Beta-Thalassemia

c. Hemoglobin S/C Disease

d. Others detectable through hemoglobin electrophoresis

5. Genetic Disorders

a. Spinal Muscular Atrophy (SMA)

6. Others

a. Biotinidase Deficiency

b. Congenital Adrenal Hyperplasia

c. Congenital Hypothyroidism

d. Cystic Fibrosis

e. Galactosemia

f. Severe Combined Immunodeficiency (SCID)

g. Critical Congenital Heart Disease

h. Pompe

i. Adrenoleukodystrophy (X-ALD)

j. Mucopolysaccharidosis (MPS-1)

B. The hospital or health care facility, or, in the event the birth occurred in a location other than a health care facility, the physician and/or midwife attending a newborn child shall cause a filter specimen for the newborn, on a slip supplied by the Department, to be submitted to the laboratory designated by the Department.

C. Any laboratory designated by the Department to analyze newborn screening tests shall be approved by the Director to perform the tests cited in § 1.3(A) of this Part and as required in this Part.

1. All reports of newborn screening tests shall be communicated by the designated laboratory to the Department's designee for follow-up. All such reports shall include actual value and reference ranges used for each disorder.

2. Any reports of inconclusive results shall be communicated by the Department's designee for follow-up to the newborn's primary care physician for repeat testing.

3. Any reports of positive results shall be communicated by the Department's designee for follow-up to the newborn's primary care physician and any applicable pediatric specialty diagnostic clinic for diagnosis confirmation.

4. Confirmation of diagnosis shall be communicated to the Newborn Screening Program by the confirming health care provider, e.g., specialty diagnostic clinic, within ninety (90) days of confirmation of the diagnosis. Such confirmation shall include:

a. Each confirmed newborn screening diagnosis;

b. Diagnostic test type;

c. Treatment type; and

d. Any additional information the Director may require for surveillance, or for other program or grant purposes.

216 R.I. Code R. 216-RICR-20-05-1.3

Amended effective 7/1/2020