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Newborn blood spot screening

What conditions are screened for?

​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​Biotinidase (BIOT) deficiency​​
Carnitine uptake de​fect (CUD)
Citrullinemia (CIT)
Congenital adrenal hyperplasia (CAH)
Congenital hypothyroidism (CH)
Cystic fibrosis (CF)
Galactosemia - Classic (GALT)
Glutaric acidemia type 1 (GA1)
3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficiency
Isovaleric acidemia (IVA)
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Maple syrup urine disease (MSUD)
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
Methylmalonic acidemia (MMA)
Phenylketonuria (PKU)
Propionic acidemia (PA)
Severe combined immunodeficiency (SCID)
Sickle cell disease (SCD)
Spinal muscular atrophy (SMA)
Tri-functional protein (TFP) deficiency
Tyrosinemia type 1 (TYR1)
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency

What causes these conditions?

These conditions are often genetic. Usually babies are born with them when they inherit a gene, which has a change in it, from both parents. This change stops the gene from working properly. Sometimes the conditions can happen for no reason. The treatable conditions are not caused by anything that happened during pregnancy.

There may be no signs of these conditions at birth. It’s important to remember that many treatable conditions can’t be seen by looking at your baby.

What if testing shows m​y baby has one of these conditions?

If testing shows that your baby has one of these conditions, a specialized healthcare team will work with you to make a care plan for your baby.

Where can I learn more?

To learn more about newborn screening, visit Newborn Screening-Alberta Health Services.

To learn more about the conditions screened for, go to Baby’s First Test.

Be careful when you search for information on the internet. Get information from trusted sources and learn where to find reliable information. If you have concerns about your baby's health or need support for you and your family, speak with your family doctor or specialized healthcare team. You can also call Health Link at 811.


Current as of: March 3, 2023

Author: Alberta Newborn Screening Program, Alberta Health Services