To help your baby get the best start in life and stay healthy, your newborn — and every newborn in Ontario — can be screened for a number of rare but treatable diseases.

Newborn Screening Ontario (NSO) screens for a variety of diseases including:

  • Metabolic and Endocrine diseases
  • Sickle Cell Disease (SCD)
  • Cystic Fibrosis (CF)
  • Severe Combined Immune Deficiency (SCID)
  • Spinal Muscular Atrophy (SMA)

This screening is performed on a dried blood spot sample usually collected between 24–48 hours after birth by pricking the heel.

Newborn screening also includes Critical Congenital Heart Disease (CCHD) and Biliary Atresia (BA) screening.

CCHD screening is performed via pulse oximetry at the bedside and results are available right away.

BA screening is the first disease that is a parent-led screen, which is done by comparing your baby’s poop colour to the Infant Stool Colour Card, provided at discharge from hospital or by your midwife, family doctor, or pediatrician.

Newborn Screening Ontario (NSO)

NSO is located at the Children's Hospital of Eastern Ontario (CHEO) in Ottawa. NSO conducts all of the newborn screening for the province.  NSO oversees CCHD and BA screening to support quality, consistency and access to screening for all babies in Ontario.

In collaboration with the Ontario Infant Hearing Program, NSO also screens for risk factors for permanent childhood hearing loss using the newborn screening sample. This additional testing is only performed with a parent or guardian’s consent.

For detailed information about NSO and the tested diseases, visit the NSO website.

Early detection leads to early treatment

Babies with one of the diseases screened for may appear normal at birth, and without newborn screening, might not be identified before irreversible damage has occurred. Most of these babies will not have a family history of the disease. These diseases can be associated with:

  • recurrent illnesses
  • developmental disabilities
  • severe learning problems
  • frequent sickness
  • death

Early identification allows for early treatment that may prevent such harmful outcomes. For babies who start to become ill soon after birth, newborn screening may also save valuable time and resources in making a definite diagnosis.

All diseases included in newborn screening are rare. About 350 of the 143,000 (0.24%) babies born each year in Ontario will have one of these diseases. Even if no one in your family has one of these diseases, your baby still could. By testing a small amount of your baby's blood within the first days of life, these diseases can be identified early.

The goal of screening is early detection so that treatment can be started early and better health can be achieved.

For a complete list of the diseases included in the screening, visit the NSO website.

Screening results: high risk and low risk

A screening test only shows whether there is a high risk (screen positive) or low risk (screen negative) that your baby has a disease. The test does not diagnose the disease. It identifies whether your baby needs further testing. Less than 1% of babies will screen positive and need further testing.

Sometimes the first blood sample cannot be tested for different reasons. Sometimes there is not enough blood to do the test, or there is some other problem with the sample. If this is the case, NSO will contact the hospital or health care provider that sent in the sample and ask them for a new one.

You will be contacted by the birth hospital or your health care provider if your baby needs to have another blood sample collected. This does not mean that your baby is at high risk (screen positive) for the diseases screened.

The test results are sent to the hospital or health care provider that sent in your baby's sample. If your baby screens positive, NSO will refer your baby to a specialized follow-up centre in your region for further testing to find out if your baby has the disease. You will be contacted by the centre if your baby screens positive so that further testing can be arranged. You will not be contacted if your baby screens negative.

In some cases, babies may need to have their CCHD screen repeated because their screening was incomplete. If your baby's CCHD screen was incomplete, you will be contacted by your health care provider or the hospital that performed the screen.

Health care providers are responsible for ensuring that all babies born in Ontario are offered newborn screening. This screening identifies babies who need more testing. It does not provide a diagnosis. Screening is considered to be the standard of care for every baby but is not mandatory.

Most families want to have their baby screened. However, some may decide to decline. Health care providers should discuss this decision with parents, document this in the baby's medical record and complete the decline form on the newborn screening card.

Please note that personal health information will be shared between the health care providers involved in newborn screening and diagnosis so babies who screen positive receive appropriate care and follow-up. As with any health information, families may choose not to share this information. In this case, they should be encouraged to discuss the decision with their health care provider or contact NSO directly. NSO is committed to keeping samples and related health information safe and confidential by following the rules set out in law about their collection and use.

After testing is finished, samples are stored in a secure facility as part of a child’s medical record. NSO may use the samples to ensure the quality of the laboratory tests and the newborn screening system. A sample may also be needed by a child’s doctor to run extra tests in the future or to improve or develop new NSO tests.