Newborn Screening (NBS)

Why Newborn Screening Is Important

A few small drops of your baby’s blood can provide valuable insight into their health. Even when a newborn appears healthy, they may have a rare and serious condition that isn’t immediately visible. Newborn screening helps identify babies who may have one of these conditions early — often before symptoms appear. Early detection and treatment can prevent or reduce the risk of serious health issues, supporting your child to live a healthier life. Without screening, some conditions can lead to developmental delays, growth concerns, or, in rare cases, life-threatening complications. For many families, a positive result is unexpected, as these conditions are often not present in the family history and the baby looks healthy at birth.

How Newborn Screening Blood Samples Are Collected

The test is simple: a few drops of blood are collected from your baby’s heel and placed on a special filter paper called a blood spot card. Once dried, the card is sent to one of Canada's Newborn Screening Laboratories based on where you live. This single sample screens for all conditions included in the newborn screening panel for that lab.

Samples are usually collected at the birth hospital or, for home births, by a registered midwife. The ideal time for collection is between 24 and 48 hours after birth.

While the heel prick may cause brief discomfort, there are simple ways to keep your baby calm and comfortable, such as feeding, holding them skin-to-skin, or keeping them close in your arms.

What Newborn Screening Means for Families

Newborn blood spot screening is a highly recommended standard of care across Canada. It helps identify rare but treatable conditions that, if left untreated, can cause serious long-term health issues, developmental delays, or life-threatening complications. Early detection allows for timely treatment, giving babies the best chance at a healthier, longer life.

Parents and legal guardians do have the right to decline newborn screening. However, it is important to make an informed decision by discussing the benefits, risks, and purpose of the test with your healthcare provider during pregnancy. Because these conditions can be serious or even life-threatening if missed, health experts strongly encourage screening for every baby.

Parents or legal guardians can also choose to have any leftover blood samples returned or destroyed by completing the appropriate forms. If no request is made, samples are securely stored for 10 years to support quality assurance and research efforts. Regardless of what a parent decides to do in relation to sampling, samples are not held in a DNA database or stored by police for future assistance in criminal matters.

Note for Parents: A newborn screening result that is initially positive does not necessarily mean your baby has the condition. Labs use strict detection thresholds to capture as many potential cases as possible. Sometimes a second test will show that the first result was a false positive. When it comes to these rare disorders, catching a possible case early—even if it turns out to be false—is far safer than missing a true case.

Newborn Screening Laboratories Across Canada

Each province and territory in Canada is connected to one of several newborn screening laboratories. These labs analyze the dried bloodspot cards collected shortly after birth and ensure timely results reach local healthcare providers. Not all provinces screen for the same conditions, and some share lab resources across regions.

If you click on the provincial name where the lab is located, it will take you to off CanPKU+ website and bring you to that labs website.

Province / Territory	Screening Laboratory	Region(s) Served
British Columbia Yukon Territory	Newborn Screening BC	Located at BC Children’s Hospital; serves BC and Yukon.
Alberta Northwest Territories Kitikmeot Region (Nunavut)	Alberta Newborn Screening Program	Based in Edmonton; processes samples from Alberta, NWT, and western Nunavut.
Saskatchewan	Saskatchewan Universal Newborn Screening Program	Located in Regina; serves all Saskatchewan newborns.
Manitoba Kivalliq Region (Nunavut)	Manitoba Newborn Screening Program	Located at Cadham Provincial Laboratory; serves Manitoba and central Nunavut.
Ontario Qikiqtaaluk (Baffin) Region (Nunavut)	Newborn Screening Ontario (NSO)	Located at CHEO (Ottawa); serves Ontario and eastern Nunavut.
Québec	Quebec Neonatal Blood and Urine Screening Program	Provincial program with laboratories across Québec; performs both blood and urine screening.
Maritimes (Nova Scotia, New Brunswick, Prince Edward Island)	Maritime Newborn Screening Program	Located at the IWK Health Centre in Halifax; serves all Maritime provinces.
Newfoundland and Labrador	External Screening Arrangements	Samples analyzed through partnerships with labs in Ontario, Manitoba, or Alberta.
Nunavut (territory-wide)	Shared Services Model	Samples routed regionally: Kitikmeot → Alberta, Kivalliq → Manitoba, Qikiqtaaluk → Ontario.

No News isn't always good news: Many parents hear the phrase "No News is Good News" when it comes to Newborn Screening. Yes, it is true that if the screening results come back negative you won't hear anything further about the newborn screening test. It is also true however, that it is quite alarming to a family to get "the call" saying there is news. There is news. This must be bad - it is the opposite to "no news being good news". As a parent who did receive this call, I cringe every time I hear the all familiar statement.

Here are my personal thoughts, in hindsight, I wish I fully understood that getting news, was also good news. If we had not received the "news" that our son screened as a possible positive for PKU, we would not have had a second test that confirmed the diagnosis. We would not have been connected to a clinical team of doctors, nurses, genetic counsellors, nor had unlimited access to a dietician ensuring his nutritional intake supports his growth and brain development. We might not have noticed that he was falling behind on milestones. The news allowed us to connect with CanPKU+ and families who had older children with the same disorder and see them thriving. We gained access to critical resources and a community of support—a "village" of parents, siblings, diagnosed individuals, and clinical teams who truly understand the journey. In our case, No news would NOT have been good news, nor would it have changed the fact that our son had PKU; it simply would have closed doors before they could open.

Looking back, better understanding the value of the news may have also allowed us to better embrace the news, not fear it. Since the news, we are so grateful for support we received, the friends we made, the laughter, the tears, and the shared learning experiences that were all made possible because of "the news." We have learned more science than high school could have ever taught, became chefs by our own designation in the kitchen, have a unique skill set of knowing how much protein is various food items - without a second thought, can spell the disorder name without looking it up, watched and explored emerging treatments, and discovered how we can access these early interventions. The fear and anxiety associated with "The Call" or "The News" is understandable. It is natural to assume that when the phone rings, the news must be bad—but it can and should be reframed.

For us, being informed allowed immediate action that profoundly shaped our son’s health and future. As a parent of a child whose has a rare disorder that was detected through Newborn Screening, I understand the news so much differently now. For all parents receiving the news for the first time, I will support you and positivity around his news. This moment should be reimagined—not as a source of dread, but as a pivotal opportunity for hope, empowerment, and life-changing care. I would take any bet, that those parents who have children that "should" have received the news, but were not made aware either by screened limitations due to jurisdictional factors in Canada, or those whose test received a false negative - they would give just about anything to have received the news back when it could have made a world of difference their child and family.

If you are here because of "the news" welcome to the family! Please let us know how we can support you!

CanPKU+ not only supports those with PKU but other rare disorders that are screened for during newborn screening.

For more information on specific disorders - including what they are, why early screening matters, what a missed diagnosis can look like, and other matters unique to their disorders please click the links to be taken to the disorder specific page.

Classic Homocystinuria (HCU)

Maple Syrup Urine Disease (MSUD)

Phenylketonuria (PKU)

Urea Cycle Disorders (UCDs)

Is your disorder covered by newborn screening - but does not have a patient advocacy/support group in Canada? Reach out and we will do our best to add you to the "plus"!

References & Further Reading

All references are factual and can be accessed for more detailed information. Please note, clicking the links below will take you to another website and off of CanPKU+’s website.

“Timing is Everything”, published by the Network of Rare Blood Disorder Organizations. Link
From the Museum of disABILITY in Buffalo, NY – The Guthrie Test – History of the Bloodspots. Link

We also encourage you to visit the disorder specific page above for more NBS articles that pertain to your disorder.

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