Newborn screening

Approximately 140,000 babies are born each year in Ontario. The majority of these babies are very healthy but some may have a rare disorder that if left undetected or untreated can lead to serious health problems, intellectual disabilities, or even death. All babies born in Ontario are screened for a panel of 28 disorders, as well as Critical Congenital Heart Disease (CCHD), which can be treated if detected early in life. 

What is a newborn screen?

A newborn screen is a blood test done after birth to test for diseases that tend to show no signs during the newborn time. Screening results show if a baby is at higher or lower risk for a disease but cannot confirm or rule out a disease.

A small amount of blood will be taken from your baby’s heel and sent to Newborn Screening Ontario in Ottawa where it will be tested. The key to the best treatment is early diagnosis.

Why is newborn screening important?

  • Every baby is at risk
  • The diseases are serious and could be life threatening if not treated
  • You cannot tell by looking at a baby is he or she has one of the diseases
  • There is usually no family history of the disease
  • Parents will be notified if they baby needs more testing

What does a positive screen mean?

A positive screen means that your baby has a higher chance of having a disease that was screened for. More tests will need to be done.

What does a negative screen mean?

A negative screen means that it is not likely that your baby has a disease that was screened for. No more testing will be needed.

What does an unsatisfactory screen mean?

An unsatisfactory screen means that the first blood sample was not good enough for testing.
This could be for many reasons. Some of these reasons include a sample being taken too early, the blood sample was poorly taken, or damage to a sample. To make sure your baby is healthy, it is best to have a repeat newborn screen.

If your baby needs a repeat newborn screen, you will be contacted by staff at Hotel Dieu Hospital site to book a second screening appointment either at the Children’s Outpatient Centre (COPC) or the Brock 1 clinics at Hotel Dieu Hospital site.

Click here to learn more about screening results.

What do I do after I receive a positive screen?

If you receive a positive screen, you will be contacted by a nurse from Hotel Dieu Hospital site to book a follow-up appointment for additional testing. These results will be reviewed by a specialist and then discussed with you. Depending on the results, you and your child may be referred to one of the specialty clinics COPC.

How can I request a copy of my child’s results?

Newborn Screening Ontario has committed to provide your family doctor with a copy of your results within a few days. Results can also be requested directly through Newborn Screening Ontario with submission of a request form.

What regions are covered by KHSC’s Newborn Screening Program?

The region covered by KHSC’s newborn screening program is from Peterborough to Brockville. Patients who receive a positive screen from care providers in these surrounding regions will be referred to KHSC for their follow-up testing.

More Information:

To learn more about the newborn screen, please visit:

For additional, non-urgent questions, contact KHSC's Newborn Screening Coordinator at 613-544-3400 ext. 3217.


Pediatric Genetics 

Many childhood disorders have an inherited or genetic cause.  Our Pediatric Genetics Clinic sees both outpatients and pediatric patients in the hospital who are referred for assessment for a known or suspected genetic condition. 

Some common reasons for referral include birth defects, developmental problems, autism, chromosome abnormalities or one of many inherited conditions.  Please feel free to contact us to discuss whether a referral would be beneficial. 
An assessment in our clinic will often include:

  • Review of medical, pregnancy and family history
  • Physical examination
  • Genetic testing, including a discussion of risks, benefits and limitations
  • Organization of appropriate referrals to other health specialists or resource groups in the community
  • Genetic counselling

Physicians can make a referral using the Medical Genetics Referral Form .

Click here to find out more about the Medical Genetics Unit at KGH.