- Newborn Screening Coordinator
401-681-1150 x 1126
State of Rhode Island: Department of Health
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Newborn Screening Information for Healthcare Providers
The Rhode Island Newborn Screening Program is managed by the Rhode Island Department of Health. Specimens are collected from infants at 24-48 hours of life and sent to the New England Newborn Screening Program Laboratory for analysis in Jamaica Plain, MA. (more) Results are reported to pediatric care providers by the Newborn Screening Coordinator at the VNA of Care New England and are also available in KIDSNET. Abnormal results are reported to pediatricians and specialty care providers via telephone and a follow-up fax. Specialty clinics at Rhode Island Hospital provide diagnosis, treatment, genetic counseling and ongoing management for infants identified with newborn screening conditions.
Resources
The American College of Medical Genetics developed ACT Sheets in 2006 for all newborn screening conditions in their recommended uniform condition panel. These information sheets have been tailored to provide Rhode Island-specific information and are faxed to Rhode Island providers when an infant in their practice has an out of range newborn screening result.
Screening Conditions
Hemoglobin Conditions
- Sickle cell anemia (SS)
- Sickle/Beta-Thalassemia (S/Th)
- Sickle/Hemoglobin C disease (S/C)
Amino Acid Conditions
- Phenyketonuria (PKU)
- Maple Syrup Urine Disease (MSUD)
- Homocystinuria (HCY)
- Citrullinemia (CIT)
- Argininosuccinic acidemia (ASA)
- Tyrosinemia type I (TYR1)
Fatty Acid Oxidation Conditions
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
- Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
- Trifunctional protein deficiency (TFP)
- Carnitine uptake defect (CUD)
Organic Acid Conditions
- Isovaleric acidemia (IVA)
- Glutaric acidemia type I (GAI)
- Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency (HMG)
- Multiple carboxylase deficiency (MCD)
- Methylmalonic acidemia due to mutase deficiency (MUT)
- Methylmalonic acidemia cblA and cblB forms (CBLA, B)
- 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
- Propionic acidemia (PROP)
- Beta-Ketothiolase deficiency (BKT)
Endrocrine Conditions
- Congenital hypothyroidism (CH)
- Congenital adrenal hyperplasia (CAH)
Cystic Fibrosis (CF)
Other Conditions
- Biotinidase deficiency (BIOT)
- Classical galactosemia (GALT)