Newborn Screening

Newborn screening is available to every newborn in Ontario. Newborn screening is a specialized way of identifying newborns who are at risk to have a disorder that can lead to significant health concerns, even death. There are seven groups of conditions screened through this testing including cystic fibrosis, spinal muscular atrophy, metabolic conditions, endocrine conditions, sickle cell disease, severe combined immune deficiency, and critical congenital heart disease.

The Genetics clinic is affiliated with positive screens for metabolic conditions, cystic fibrosis, spinal muscular atrophy and severe combined immune deficiency.  

All screen positives are seen at our clinic by a genetic counsellor or nurse and a physician. We also work with other specialty departments to manage these patients and ensure timely and appropriate follow up if a diagnosis is made after confirmatory testing.

Currently, close to 30 conditions are screened through this program. All samples are initially processed by Newborn Screening Ontario (NSO) at the Children’s Hospital of Eastern Ontario (CHEO). For more information about the Newborn Screening program in Ontario, visit their website at CHEO NSO (