Cystic fibrosis is a disease that can be detected by prenatal, genetic and screening tests. This research is of great importance for the diagnosis, early treatment and rehabilitation of this most common genetic disease in the human population.

Cystic Fibrosisis a disease that can be detectedscreening tests ,prenatal testsand genetic research . They are very important because cystic fibrosis is difficult to detect because its symptoms are not very specific.

Cystic fibrosis - newborn screening

Neonatal screening identifies congenital diseases, using appropriate tests, before their symptoms develop. According to the Ministry of He alth, if left untreated, it leads to severe malnutrition, obstructive pulmonary disease and respiratory tract infection. The diagnosis of cystic fibrosis in early infancy enables early detection and treatment of pancreatic exocrine insufficiency, preventing nutritional deficiencies, and achieving proper somatic development by sick children (weight and height).

The test involves collecting the newborn's blood on a special tissue paper and sending it to the laboratory.

Screening for cystic fibrosis covers all newborns in Poland since June 2009.

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Cystic fibrosis - prenatal testing

Cystic fibrosis in a baby can be detected during pregnancy. However, for this purpose, invasive prenatal examinations are performed, with the risk of harm to the fetus.

Cystic fibrosis - genetic testing

Cystic fibrosis is a genetically determined disease caused by a mutation in the CFTR gene. Such abnormalities can be detected by genetic testing. To date, over 2,000 different mutations of the CFTR gene are known, and these studies allow for the determination of a specific mutation.

Cystic fibrosis - sweat test

The symptoms of cystic fibrosis are often not obvious. "When I kiss my baby's head, s alt stays on my lips", "I noticed that my baby's sweat is intensely s altytaste. Is this really a cause for concern? "- these parental relationships do not have to be oversensitive. Sweat is usually s alty, but" s alty sweat "tastes special. Sometimes even s alt crystals may appear on the child's skin. These are symptoms of cystic fibrosis. sweat test, which consists in determining the concentration of chloride in the sweat A sweat sample is collected with a special sweat stimulation device To do this test free of charge, you need to refer to a cystic fibrosis clinic from your GP or GP.

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Research