Newborn Screening Information For Healthcare Professionals
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 Worcester, Massachusetts. 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. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential.
What you should do
Know the conditions babies are screened for at birth
All newborns in Rhode Island are screened for certain conditions before hospital discharge to identify serious or life-threatening conditions before symptoms begin. The list of conditions appears below.
Provide brochures to your prenatal patients
What You Need to Know before You Have Your Baby introduces expecting moms and dads to the blood and hearing screenings their newborns will receive before they leave the hospital. It also provides information on KIDSNET and on support available to families through home visiting. Order free brochures online.
Use KIDSNET to view screening results and follow-up
Diagnoses, test results, and treatment information are available online in KIDSNET for all babies referred for diagnostic testing based on an abnormal newborn screening. Please use KIDSNET to view all newborn screening results and recommended follow-up for your patients.
Refer to ACT sheets for guidance on specific conditions
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.
Be aware of the protocol for sickle cell testing of college athletes
Both the National Collegiate Athletic Association (NCAA) and the National Athletic Trainers' Association (NATA) have recommended sickle cell trait testing for college athletes to reduce the incidence of training-related deaths. The Department recommends that providers refer student athletes born before 1999 for hemoglobin electrophoresis testing to determine if they are carriers of the sickle cell gene. Due to inadequate documentation and storage conditions, the Newborn Screening Program cannot provide reliable sickle cell test results for these students. The recommended test can be performed at a clinical laboratory with a physician's order.
Screening Conditions
Hearing loss
Hearing screening and diagnostic results are available in KIDSNET for every infant. more
Hemoglobin conditions
Amino Acid conditions
- Phenylketonuria (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)
Neuromuscular
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)