Newborn Screening

A healthy start leads to a healthier life

For over half a century, health care providers have offered newborn screening for phenylketonuria (PKU) to all infants born in Ontario. Newborn Screening Ontario (NSO) now screens for a variety of diseases including metabolic and endocrine diseases, sickle cell disease, cystic fibrosis and severe combined immune deficiency. Critical congenital heart disease (CCHD) was added to the Ontario newborn screening panel in 2017.

NSO is located at the Children's Hospital of Eastern Ontario (CHEO) in Ottawa. NSO conducts all of the newborn screening for the province and oversees the CCHD screening program. For detailed information about NSO and the tested diseases, visit the NSO website.

Early detection. Early treatment. Big benefits.

Babies with one of the tested diseases 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, and death. Early identification allows 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.

Informed parents. Informed choices.

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.

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