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Ontario's Newborn Screening Program

Archived Backgrounder

Ontario's Newborn Screening Program

Office of the Premier

Ontario is now home to the most comprehensive newborn screening program in Canada. By the end of the year, the new lab at the Children's Hospital of Eastern Ontario (CHEO) will screen for 27 disorders.

Newborn screening programs identify a range of disorders in infants. Early detection means that children can be treated sooner, which helps reduce the chance of serious health problems later in life.

Ontario's program and new lab, hosted by CHEO, features:

  • Three tandem mass spectrometry machines to screen for inherited metabolic disorders (IMDs)
  • Screening for blood and endocrine disorders that will be performed using additional technologies
  • By the end of the year, screening for 27 rare genetic diseases.

Inherited Metabolic Disorders (IMDs)

The government is expanding screening to test for 20 IMDs. The 20 IMDs fall under three categories: organic acid disorders, fatty acid oxidation disorders and amino acid disorders.

Organic acid disorders (OAs)

Babies born with an organic acid disorder have a chemical imbalance in their body that can be toxic. Organic acids play an important role in the breakdown of fats, sugars and protein for the body's use and storage. Muscle wasting, seizures, developmental delays and even death can occur if untreated. There are several tests used to screen for OAs.

Fatty acid oxidation disorders (FAODs)

Without treatment, children with a fatty acid oxidation disorder may experience periods of poor feeding, lack of energy, difficulty breathing, low blood glucose and vomiting. These episodes can become serious enough to lead to developmental delay, seizures, coma and even sudden death.

Amino acid disorders (AAs)

Babies born with amino acid disorders cannot metabolize or process amino acids properly. The result is an amino acid and protein imbalance and build-up in the body. Early treatment helps prevent brain damage, mental retardation, coma, seizures, autistic-like disorders and even death.

Blood Disorders

Sickle hemoglobin disorders are life threatening, inherited blood disorders characterized primarily by chronic anemia and periodic episodes of pain. They primarily affect babies of African, Spanish, Mediterranean, Middle Eastern and East Indian descent. Screening for these disorders will benefit babies by leading to penicillin treatment, which can reduce infant mortality by 84 per cent.

Endocrine and Other Disorders

Ontario already screens newborns for congenital hypothyroidism (CH). Ontario will add screening for another endocrine disorder, congenital adrenal hyperplasia (CAH), as well as for two other disorders, biotinidase and galactosemia.



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