Prevention of cystic fibrosis (cystic fibrosis)

Prevention of cystic fibrosis (cystic fibrosis)

Can we prevent?

Unfortunately, it is not possible to prevent cystic fibrosis in a child whose two CFTR genes are mutated. The disease is then present from birth, although symptoms may appear later.

Screening measures

Couples with family history of the disease (case of cystic fibrosis in the family or birth of a first affected child) may consult a genetic counselor in order to know their risks of giving birth to a child with the disease. The genetic counselor can educate parents on the various options available to help them make an informed decision.

Screening of future parents. In recent years, we can detect the genetic mutation in future parents, before the conception of the baby. This test is usually offered to couples with a family history of cystic fibrosis (a sibling with the condition, for example). The test is performed on a sample of blood or saliva. The objective is to screen for a possible mutation in the parents, which would make them likely to transmit the disease to their future child. However, be aware that the tests can only detect 90% of mutations (because there are many kinds of mutations).

Prenatal screening. If the parents have given birth to a first child with cystic fibrosis, they may benefit from a prenatal diagnosis for subsequent pregnancies. Prenatal diagnosis can detect possible mutations in the cystic fibrosis gene in the fetus. The test involves taking placental tissue after the 10e week of pregnancy. If the result is positive, the couple can then choose, depending on the mutations, to terminate the pregnancy or to continue it.

Preimplantation diagnosis. This technique uses fertilization in vitro and allows only embryos which are not carriers of the disease to be implanted in the uterus. For parents “healthy carriers” who do not wish to take the risk of giving birth to a child with cystic fibrosis, this method avoids the implantation of an affected fetus. Only certain centers for medically assisted procreation are authorized to use this technique.

Newborn screening. The objective of this test is to identify newborns with cystic fibrosis in order to offer them the required treatments as soon as possible. The prognosis and the quality of life are then better. The test consists of the analysis of a drop of blood at birth. In France, this test has been carried out systematically at birth since 2002.

Measures to prevent complications

  • These are the classic hygiene measures to reduce the risk of infections: wash your hands with soap and water regularly, use disposable tissues and avoid contact with people with colds or those suffering from a contagious disease. .

  • Receive vaccines against influenza (annual vaccination), measles, pertussis and chickenpox to reduce the risk of infections.

  • Avoid having too close contact with other people with cystic fibrosis who could transmit certain germs (or catch your own).

  • Thoroughly clean the equipment used for the treatment (nebulizer device, ventilation mask, etc.).

 

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