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

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.
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 diagnosis the disease. It identifies whether your baby needs further testing. Fewer than 1 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's test needs to be repeated. 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 contact you and will refer your baby to a regional Treatment Centre for further testing to find out if your baby has the disease. If your baby screens negative, you will not be contacted.

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