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Clinical and Metabolic Genetics
Clinical and Metabolic Genetics

Newborn Screening program

Newborn screening (NBS) involves taking a small sample of blood by pricking the baby’s heel after birth. This sample is then sent to the Ontario Newborn Screening Program in Ottawa for analysis. All babies in Ontario have this test to screen for serious, treatable diseases.

Why is newborn screening important?

One important goal of NBS is to try to offer early diagnosis to babies who have one of the diseases for which screening is available. Early diagnosis means treatment can be started as soon as possible. Early diagnosis and treatment can make a difference with health outcomes for these babies.

When did newborn screening start in Ontario?

The province of Ontario began offering newborn screening for phenylketonuria (PKU) in 1965 and added congenital hypothyroidism (CH) in 1978. In 2006, Ontario expanded to screening for 28 different metabolic, endocrine, haematologic and respiratory diseases.

What can newborn screening reveal?

The results provide information about whether further testing is needed.

A screen negative result means that everything came back normal and a baby has a very high chance of not having a disease. If a baby screens negative, these results go directly to the hospital where the baby was born or to the healthcare provider.

A screen positive result does not mean that a baby has a disease; only that further testing is required. If a baby screens positive, the Ontario Newborn Screening Laboratory contacts one of five Treatment Centres in the province. SickKids is one of these Centres that have been established to provide follow up for screen positive babies.

For more information, visit the Ontario Newborn Screening website.