Screen Positive Results

Newborn screening helps find babies who have serious diseases but may seem healthy at birth. When these diseases are picked up early in life, treatment can help prevent health problems, mental retardation, and in some cases, death.

A “screen positive” result does NOT mean that a baby has the disease. It means that the baby has a higher chance to have the disease and that more testing is needed to find out for sure.

What happens when a baby screens positive on the newborn screening blood test?

When a baby's blood sample is screen positive for a disease, the health care providers at Newborn Screening Ontario (NSO) refer the baby to specialized follow-up clinics in their region for more testing to find out whether or not the baby has the disease. NSO refers to these specialized centres as newborn screening Regional Treatment Centres.

Health care providers at the Regional Treatment Centres then contact the baby’s doctor, midwife, nurse practitioner, or parents directly to inform them of the results and arrange appointments and tests that are required to find out if the baby has the disease.

Please see the Disease Information section of our website for information about specific screen positive results.

To learn more about the follow-up for newborn screen positive infants, please visit the Screening Follow-Up page of our website.

What happens when a baby screens positive for Critical Congenital Heart Disease (CCHD)?

Screening for Critical Congenital Heart Disease (CCHD) happens at the bedside and results are available immediately. Babies who screen positive for CCHD are examined by a physician to determine the cause for the low oxygen level in their blood. The next steps may involve tests, such as an ultrasound of the heart (also known as an echocardiogram) to determine if the baby has CCHD. 

Please see the CCHD information section of our website for more information about a CCHD screen positive result.

What happens when a baby screens positive on the risk factor screen for Permanent Hearing Loss (PHL)?

Please see the hearing loss risk factor screening section of our website for more information about a positive result for congenital Cytomegalovirus or genetic risk factors for PHL.