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.