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 has now been expanded – rolling out through 2006 – to screen for at least 27 metabolic, endocrine and blood disorders. Individually, these disorders are rare, but will, as a group, affect 50 out of 130,000 newborns in the province each year.

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

These babies appear normal at birth and, unless they are screened, might otherwise not be identified to have one of these disorders until irreversible damage has occurred. If not treated, these conditions are associated with recurrent illnesses and/or developmental disabilities and/or death. Early diagnosis and treatment can result in significantly improved or positive outcomes. In some, preventative care can improve or maintain the quality of life of these babies. 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 health care provider, it's important that you emphasize to parents 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. Should a parent refuse newborn screening, the decision should be documented in the baby's medical records.

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.

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 Newborn Screening Laboratory receives 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 diagnosis and treatment can prevent this damage.

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

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