Diseases Screened

The diseases detected, that is, 11 diseases by blood screening and 7 diseases by urine screening, may take different forms, but screening is done only for the most severe forms.

If left untreated, the diseases detected prevent the body from functioning normally. They can have significant health effects for the child and even be life threatening.

Cystic fibrosis

Cystic fibrosis is a genetic disease that causes secretions to become thick and sticky, interfering with the proper function of the lungs and pancreas. It can result in repeated infections and poor absorption of food, delaying the child’s growth. The disease is detected by a blood test. An additional test, a sweat test, must be done to make a diagnosis.

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 specimenDiseases detected
Blood
  • 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 consumed, 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. Some metabolic disorders are detected by a blood test and others by a urine test.

Type of specimenDiseases detected
Blood
  • 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.
Urine
  • 3-methylcrotonyl glycinuria type 1;
  • methylmalonic aciduria;
  • propionic aciduria;
  • citrullinemia (classic and type II);
  • hyperargininemia;
  • triple H syndrome.