Newborn Screening Information for Healthcare Providers

The Rhode Island Newborn Screening Program is managed by the Rhode Island Department of Health. Blood screening 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

Critical congenital heart disease

Women and Infants Hospital is piloting pulse oximetry screening as of November 2012 to assess the feasibility of screening all Rhode Island newborns for CCHD prior to hospital discharge. You will be notified if your patient has failed the screening. (more)

Hearing loss

Hearing screening and diagnostic results are available in KIDSNET for every infant. (more)

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)