For over a quarter of a century, health care providers have offered newborn screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) to all infants born in Ontario. This program screens for at least 28 metabolic, endocrine and blood disorders. Individually, these disorders are rare, but will, as a group, affect approximately 150 out of 140,000 newborns in the province each year.

The Ontario Newborn Screening Program (ONSP), housed at the Children's Hospital of Eastern Ontario (CHEO) in Ottawa, conducts all testing for congenital disorders.

A new Ontario Newborn Screening Program information guide for health care providers is now available.

For more information, please visit the Ontario Newborn Screening Program website

These babies appear normal at birth and, without newborn screening, might not be identified to have one of these disorders before irreversible damage has occurred. Even if there is no family history of any of these disorders, babies are still at risk. If not treated, these conditions are associated with recurrent illnesses and/or developmental disabilities and/or death. Early identification of these disorders allows treatment that may prevent growth problems, health problems, mental retardation, and sudden infant death. For babies that start to become ill soon after birth, newborn screening may save valuable time and resources in making a definite diagnosis.

As a provider of antenatal or newborn care, it's important that you emphasize to parents/guardians that newborn screening is part of their baby's routine care and could save their baby's life and/or prevent serious health problems. The vast majority of parents agree to have their baby screened. Parents/guardians may choose to decline newborn screening for their baby. You should discuss this decision with them, and you should document this decision in the baby's medical record. Some health care providers will ask parents/guardians to sign a form indicating that they have refused this testing for their baby.

It is a responsibility of health care providers (HCP) to ensure that all babies born in Ontario are offered the newborn screening test. Please note that personal health information will be shared between the HCPs involved in newborn screening and diagnosis to ensure that babies receive appropriate care and follow up. Parents/guardians may choose not to share this information, in which case, they should be encouraged to discuss this with their health care provider or contact the ONSP.

A newborn screening specimen card should be completed between one day (24 hours) and seven days after the birth of the infant, ideally, between two days (48 hours) and three days (72 hours) after birth. If tested before 24 hours of age, the baby's health care provider should repeat the test within five days, at the first postnatal checkup.

Blood spots from infants are collected using the heel-prick method, which is detailed on the back of the specimen card. The parent should be given the information letter attached to the specimen card that includes a reference number in the top right hand corner. This number can be used to link to the baby's sample.

A health care provider will fill out demographic information about the baby and the baby's mother/guardian on the newborn screening card. This information allows the ONSP to correctly interpret the baby's results, and, in the event that the baby screens positive for a disorder, it will allow the health care providers coordinating follow-up to contact the parent/guardian quickly to retrieve the baby.

The hospital or health care provider will mail the baby's sample to the ONSP using the provided Xpresspost system. When the sample is received, the blood spot is tested and the demographic information from the newborn screening card is entered into a database. This database connects the baby's information with the results of the screening tests, and also serves as a way to store the baby's newborn screening result.

If you are providing care for an infant who is premature (i.e., less than 37 weeks gestation), ill, has been transfused, or has been on total parenteral nutrition (TPN) or antibiotics, please refer to the Special Considerations section.

It is critical that the ONSP receive the newborn screening specimen card as soon as possible after the blood spots are collected. Therefore, the cards should be sent no later than 24 hours after collection and, ideally, as soon as the blood spots are dry (four to six hours after collection). Babies with some of the conditions screened will start to become ill and may suffer irreversible damage soon after birth. Rapid identification and treatment can help prevent this damage.

Call the ministry INFOline at 1-866-532-3161
TTY: 1-800-387-5559

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