Diseases Screened

The diseases detected by blood and urine screening are rare but serious. If left untreated, these diseases prevent the body from functioning normally and can have significant health effects. They can even be life threatening.

The diseases screened for can take various forms. Only the most severe forms of the diseases are targeted for screening.

Cystic fibrosis

Cystic fibrosis is a genetic disease that causes secretions to become thick, interfering with the proper function of the lungs. The disease is detected by a blood test.

Children with cystic fibrosis may have:

  • serious respiratory problems;
  • repeated infections that can worsen from one time to the next;
  • poor food absorption, causing possible growth delays and vitamin deficiencies.

There is no cure for the disease, but taking vitamins or antibiotics are examples of interventions that can help limit the complications and improve life expectancy.

Congenital hypothyroidism

Congenital hypothyroidism is a disease that causes growth delays and severe intellectual disabilities. Starting treatment in the first days of life allows the child to develop normally. The disease is detected by a blood test.

Hemoglobin diseases

The hemoglobin diseases detected by screening affect the shape of red blood cells, preventing blood from circulating normally in the body. Starting treatment in the first weeks of life reduces the risk of complications and the health effects for the child.

Type of specimenDetected diseases
  • sickle cell anemia;
  • other severe forms of hemoglobin diseases where red blood cells are also deformed.

Metabolic diseases

The metabolic diseases detected by screening prevent the normal use of food, which can cause toxic waste to build up in the body. The child’s overall condition can deteriorate rapidly. Serious complications can also lead to intellectual disability, permanent damage to various organs, such as the kidneys, liver, brain and heart, as well as muscle pain. Starting treatment before the disease becomes apparent can prevent these complications.

Type of specimenDetected diseases
  • phenylketonuria;
  • tyrosinemia type 1;
  • medium-chain acyl-CoA dehydrogenase deficiency (MCAD);
  • long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD);
  • mitochondrial trifunctional protein deficiency (TFPD);
  • very long-chain acyl-CoA dehydrogenase deficiency (VLCAD);
  • glutaric acidemia type 1;
  • argininosuccinic acidemia.
  • 3-methylcrotonyl glycinuria type 1;
  • methylmalonic aciduria;
  • propionic aciduria;
  • citrullinemia;
  • hyperargininemia.