Alberta’s Newborn Metabolic Screening (NMS) Program is about health care providers working together with parents and guardians to screen for treatable conditions.

At the heart of all this is the newborn blood spot screening pathway. The newborn blood spot screening pathway makes sure all screened infants who may have one of the treatable conditions get clinical assessment, diagnostic testing and early treatment if needed. Timely screening helps find conditions that can be treated early when the treatment can help an infant the most.

The NMS Program:

• is a population based screening program that provides newborn blood spot screening to all infants born in Alberta (infants born outside Alberta and receiving health care in Alberta may also be screened)
• is delivered by Alberta Health Services (AHS) in partnership with Alberta Health, Health Canada - First Nations Inuit Health Branch (FNIHB) Alberta Region, providers, and parents and guardians
• works toward minimizing morbidity and mortality of Alberta infants through early diagnosis and treatment of screened conditions; ensures that all babies born in Alberta receive timely access to effective newborn blood spot screening and to have an initial screen reported on or before the 10th day of age; and informing parents, health professionals and the public about the NMS Program

Population based screening programs offer a screening test(s) to all individuals in a defined population with agreed upon policies, protocols, quality management, monitoring and evaluation methods.

Newborn blood spot screening pathway

The newborn blood spot screening pathway within the NMS Program consists of the following steps:

• Registration
  • infant registered and given Alberta Unique Lifetime Identifier (ULI) within 24 hours of age
• Collection and transportation
  • a few drops of blood are collected from a heel poke onto a blood spot card in hospital, lab, home or clinic between 24 and 72 hours of age, as close to 24 hours as possible
  • the newborn bloodspot card is received by the NMS Lab in Edmonton within 72 hours of collection
• Analysis and reporting
  • newborn blood spots analyzed to screen for 17 treatable conditions within 48 hours of lab receipt
  • normal screen results called and faxed to primary care provider; abnormal results sent to physician or midwife and specialty clinic within 96 hours of lab receipt
• Follow-up
  • repeat collections arranged by public health nursing
  • infant assessed and other testing arranged, and treatment started when needed

Screened conditions

Newborn blood spot screening helps find conditions that can be treated early to prevent health problems, improve an infant’s health and maybe even save an infant’s life.

Provider information describes the treatable conditions screened for by the NMS Program. They provide insight into next steps in the newborn blood spot screening pathway after an infant has an abnormal screen result. To learn more, see:

Metabolic Conditions

• BIOT - Biotinidase deficiency
• CUD - Carnitine uptake defect
• CIT - Citrullinemia
• GA1 - Glutaric acidemia type 1
• GALT - Classic galactosemia
• HMG - 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficiency
• IVA - Isovaleric acidemia
• LCHAD - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• MCAD - Medium chain acyl-CoA dehydrogenase deficiency
• MMA - Methylmalonic acidemia
• MSUD - Maple syrup urine disease
• PA - Propionic acidemia
• PKU - Phenylketonuria
• TFP - Tri-functional protein deficiency
• TYR1 - Tyrosinemia Type 1
• VLCAD - Very long chain acyl-CoA dehydrogenase deficiency

Endocrine Conditions

• Congenital adrenal hyperplasia (CAH)
• Congenital hypothyroidism (CH)
  • Congenital Hypothyroidism Algorithm
  • Congenital Hypothyroidism Pathway

Cystic Fibrosis

Sickle Cell Disease

• SCT - Sickle cell trait

Severe Combined Immunodeficiency

More information

About the NMS Program

• Alberta’s Newborn Metabolic Screening Program Summary
• NMS Program: Annual Reports