Cystic fibrosis is a hereditary condition associated with various health problems.
Diseases that were not previously controlled in the basic examinations can now be detected. These diseases include cystic fibrosis. There is no problem here with an entire chromosome but with a gene change (mutation). It is inherited by parents. If both parents are carriers, the chances that the child may be born healthy are 25%, 25% suffering from cystic fibrosis and 50% a carrier. If only one parent is a carrier then the chances are 50% to be born a healthy child and 50% a carrier.
There is not one mutation but many, other common and other rare. The most common is DF508 (it accounts for half of the cases and is now covered by EOPYY). The more we search, the higher the rate of successful detection (that is, the probability of finding the problem) but also the cost. The laboratories offer various packages.
According to current practice, the mother is first checked. If the test shows a normal result, we do nothing else. If she proves to be a carrier, the father is also checked (obviously if the couple is checked in advance it is better, but the cost is higher).
If the tests show that both parents are carriers, we proceed with the amniocentesis of the fetus.
Cystic fibrosis is not an anatomical abnormality of the fetus but is associated with health problems as it grows (e.g., frequent infections, residual development). Thick mucus is produced which affects the function of organs such as the lungs, intestine, pancreas. Cystic fibrosis is compatible with life and in this sense in many countries neither control nor termination of pregnancy is offered. However, it is a disease with a life expectancy of 20-25 years (the last of them with poor quality of life). When, therefore, we are entitled to intervene is in the gray zone. In Greece today the decision has to be discussed with the couple, which will have the final say.