Newborn Screening

Getting the best start

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.

To learn more about newborn screening in Ontario, speak to your health care provider, visit the Newborn Screening Ontario (NSO) website, or call NSO at 1-877-627-8330.

Early detection leads to early treatment

Newborn Screening Ontario (NSO) screens for:

  • metabolic diseases
  • endocrine diseases
  • sickle cell disease
  • cystic fibrosis
  • severe combined immune deficiency
  • critical congenital heart disease

Although most babies with these diseases look healthy at birth, they may be at risk of having serious health problems. Their disease, if not detected and treated, may cause severe learning problems, frequent sickness and even death. Early identification could save your baby's life and is key to effective treatment.

All diseases included in the screening are rare. About 200 of 145,000 (0.1 per cent) of 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 treated early. This lowers the chance of serious health problems later in life.

Critical Congential Heart Disease (CCHD) screening is done through a quick and painless test called pulse oximetry that measures the level of oxygen in a baby's blood. This test is done at the bedside and results are available right away. NSO oversees CCHD screening to support quality, consistency and access to CCHD screening for all babies in Ontario.

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. Fewer than one per cent of babies will need further testing.

Sometimes the first blood sample cannot be tested for different reasons. For example, there was not enough blood to do the test, or there was some other problem with the sample. In this case, NSO will contact the hospital or health care provider that sent in the sample and ask them for a new one. Your health care provider will call you to let you know that your baby needs to have another blood sample collected. This does not mean that your baby is at high risk (screen positive).

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 Regional Treatment Centre for further testing to find out if your baby has the disease. You will be contacted by the centre if your baby screens positive. 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.

For More Information

Call ServiceOntario, Infoline at:
1-866-532-3161 (Toll-free)
In Toronto, (416) 314-5518
TTY 1-800-387-5559.
In Toronto, TTY 416-327-4282
Hours of operation: Monday to Friday, 8:30am - 5:00pm