Mucoviscidosis: symptoms and screening
September 17, 2021
According to statistics, cystic fibrosis affects approximately 1 in 5000 children born in France. Although this genetic disease is often diagnosed at birth, there is a prenatal screening test that does not pose a risk to the foetus. What is this test?
Cystic fibrosis and its symptoms
Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene, which can be passed from parents with the defect to their children. Affecting the airways, cystic fibrosis can shorten life expectancy and cause a developmental delay in people with the disease.
Although screening for cystic fibrosis at birth is systematic in France, it is good to know the symptoms. Cystic fibrosis manifests itself by frequent respiratory infections (accompanied by sinusitis), chronic cough and can then evolve into respiratory insufficiency.
Screening for cystic fibrosis
Currently, there is no cure for cystic fibrosis. However, a prenatal test is offered to couples at risk to ensure that their child will not be affected by the disease. This is called an ISET genetic test. It is a non-invasive method, unlike amniocentesis, which can cause miscarriage.
This test allows a diagnosis to be made from foetal cells from the mother’s blood and therefore avoids amniocentesis, which consists of taking amniotic fluid with a needle inserted into a pregnant woman’s belly.