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What is cystic fibrosis

What is cystic fibrosis?

A couple wishing to have a child must follow certain steps to ensure its health. Parents-to-be have the opportunity to have tests, even before conception, to learn about the possible presence of fetal genetic abnormalities. There are genetic diseases, such as cystic fibrosis (CF), that can be passed on through heredity.

To detect this and other X chromosome-related or autosomal recessive genetic diseases, the couple can undergo genetic testing.

Cystic fibrosis is a widespread genetic disease

Cystic fibrosis is a widespread genetic disease that affects the exocrine glands, or glands that produce mucus and sweat 1 . This disease most impacts the sinuses, liver, pancreas, intestines, reproductive system and lungs. People suffering from this serious disease produce intense mucus that tends to settle, primarily blocking the respiratory tract and digestive system 1 . In fact, the ducts that allow pancreatic juices to reach the small intestine and contribute to digestion are also obstructed. As a result, not only are there problems in nutrient absorption but there is a greatly increased risk of bacterial infections that can cause lung damage, intestinal problems and abdominal pain 1 .

Cystic fibrosis is caused by a mutation in the CFTR gene (Cystic Fibrosis Transmembrane Regulator), which encodes the synthesis of the CFTR protein responsible for the movement of chlorine, which is followed by the movement of water, from the inside to the outside of the epithelial cells of the mucous glands. The disease develops when the child inherits both mutated copies of the CFTR gene, or one from each parent. Parents who possess only one altered copy of the gene do not have the disease, but are called healthy carriers of the cystic fibrosis gene and can, therefore, pass this defective gene on to their children 2 .

The severity of the disease is variable

The degree of involvement and therefore the severity of the disease varies, but the most typical and widespread manifestations are difficulty in digesting fats, starches and proteins, deficiency of fat-soluble vitamins and progressive loss of respiratory function 2 . As a result, the person with cystic fibrosis has repeated respiratory infections, pancreatic obstruction, and inability to digest assimilated foods. Intellectual abilities, on the other hand, are not impaired at all. Also from a physical point of view, in general, the disease does not give obvious signs, either at birth or throughout life. This is precisely why it is nicknamed the “invisible disease” 2 .

Symptoms of this disease are diverse, including wheezing, breathlessness, persistent cough, frequent bronchial and pulmonary infections, poor growth, chronic diarrhea and salty sweat 2 .

In Italy, the incidence of cystic fibrosis is 1 infant in every 2.500-3.000 births

In Italy, the incidence of cystic fibrosis is 1 in every 2 newborns.500-3.000 births, with 200 new cases per year 3 . Diagnosis is made with a sweat test, on which salt concentration is measured. If the finding is abnormal, the presence of mutations in the CFTR gene will be confirmed. In Italy, diagnosis is based on newborn screening tests. Expectant couples can make this diagnosis even before birth with prenatal diagnosis by genetic testing on a chorionic villus sampling (chorionic villus sampling) 3 .

The innovative IGEA preconception genetic test, developed by Sorgente Genetica, allows parents to find out if they are healthy carriers of any disease that could be transmitted to the fetus, just like cystic fibrosis. The test allows couples to know their reproductive risk early and be able to carry out family planning accordingly.

Based on the results, it will be possible to determine the most suitable reproductive path for the couple after consultation with a geneticist.

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