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Blood and Urine Newborn Screening

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Blood and Urine Newborn Screening

Diseases detected by screening

The diseases detected by blood and urine screening are rare, but serious. If left untreated, they prevent normal body function. They may have important consequences for the child and can even be life-threatening.

The diseases screened may have different forms, but only the most serious and common forms are detected. These diseases can be divided into three groups:

Haemoglobin diseases

Heamoglobin disorders affect red blood cells and prevent normal blood circulation. Treatment that starts in the first few weeks of life reduces the risk of complications and consequences for the child.

Since November 4, 2013, babies born in hospitals and birthing centres in the Montréal and Laval regions only can also be screened for sickle cell anemia. Screening for this disease will be progressively available in the other regions of Québec.

Type of specimen Detected diseases
Blood

Metabolic diseases

Metabolic diseases prevent the normal digestion of food and may cause toxic waste to accumulate in the body. These diseases may lead to a rapid degeneration of the general state of health of the child and have serious consequences like intellectual disability or permanent damage to organs such as the kidneys, liver and brain. Treatment that begins in the first weeks of life can improve the health of the child.

Type of specimen Detected diseases
Blood
  • Phenylketonuria (PKU)
  • Type 1 Tyrosinemia
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Urine
  • Type 1 3-Methylcrotonylglycinuria
  • Argininosuccinic aciduria
  • Type 1 glutaric aciduria
  • Methylmalonic aciduria
  • Propionic aciduria
  • Pyroglutamic aciduria
  • Dicarboxylic aminoaciduria
  • Citrullinemia
  • Cystinuria
  • Prolidase deficiency
  • Hyperargininemia
  • Hartnup Disorder
  • Fanconi-Bickel syndrome

Endocrine diseases

Endocrine diseases prevent normal hormone function and may cause growth disorders or intellectual disability. Treatment that starts in the first few days of life enables the child to develop normally.

Type of specimen Detected diseases
Blood Congenital hypothyroidism

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