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-NBS-8330 (1-877-627-8330).

Early detection leads to early treatment

Newborn Screening Ontario (NSO) screens for:

• Metabolic diseases
• Endocrine diseases
• Sickle Cell Disease (SCD)
• Cystic Fibrosis (CF)
• Severe Combined Immune Deficiency (SCID)
• Critical Congenital Heart Disease (CCHD)

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 newborn screening are rare. About 225 of the 143,000 (0.16 percent) 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.

Critical Congenital 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.

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

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 one per cent 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.