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Diseases Screened

Newborn Screening Ontario (NSO) screens newborn blood spot samples for 6 groups of diseases:

  • Metabolic diseases - where the body is unable to break down certain substances in foods, like fats, proteins, or sugars.
  • Endocrine diseases - where the body produces too much or too little of certain hormones.
  • Sickle cell disease - which affects the movement of oxygen in the blood.
  • Cystic fibrosis - which causes problems with breathing and growth.
  • Severe combined immune deficiency - which affects the body’s ability to fight infections.
  • Spinal muscular atrophy - which causes muscle weakness and wasting.

Through other screening methods, NSO also screens for: 

  • Critical congenital heart disease - which affects the quantity of oxygen in the blood.
  • Biliary atresia - a serious liver disease.
  • Permanent hearing loss.

Please visit our Disease Information page for more information about these diseases. 

Contact Us

Children’s Hospital of Eastern Ontario
415 Smyth Road
Ottawa, Ontario K1H 8M8

Toll-Free: 1-877-627-8330
Local: (613) 738-3222
Fax: (613) 738-0853

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