Prevention & Diagnosis HCFA-TEAM February 15, 2023

Prevention & Diagnosis

Cystic Fibrosis gene mutations exceed 2,100 worldwide. The most frequent mutation is F508del or ΔF508 and is found in 53% of patients in our country. In Greece, more than 120 different mutations have been detected – some of which concern very few families – a fact attributed to the tremendous molecular heterogeneity of the Greek population. This fact makes molecular control particularly demanding and expensive. Furthermore, due to the specificity of the population in Greece, the application of protocols designed for homogeneous populations (e.g., Northern Europe and America) does not adequately cover the Greek population. The European Guidelines (Castellani et al. J Cyst Fibros. 2008) point out that screening should cover 75-85% of mutations in the population.

Molecular Control

Due to the high frequency of carriers and the absence of any biochemical or hematological test that can reveal carriers, preventive molecular testing concerns the entire population, not only those with affected relatives. Cystic Fibrosis molecular testing is performed in:

  • Laboratory of Medical Genetics, NKUA – “Agia Sofia” Children’  s Hospital (Athens), tel. +30 2107467468, 2107795553.

   More information (in Greek) here

  • Laboratory of Cystic Fibrosis in General Hospital “Laiko” (Athens), te. +30 2132060920, email:

    More information (in Greek) here

  • Private diagnostic centers
Prenatal Diagnostic Tests

Couples should perform molecular testing before pregnancy or during the early stages of pregnancy so that the examinees receive appropriate genetic counseling in time and the possibility of choosing a prenatal diagnosis if both members of a couple are carriers.

Prenatal diagnosis for Cystic Fibrosis, i.e., fetal screening, is only carried out if both members of the couple are carriers and the mutations they carry have been identified. Prenatal testing can also be carried out in the case of couples who already have a child with CF in whom, however, the responsible mutations have not been found.

In this case, the test is performed indirectly in Medical Genetics laboratories by taking trophoblast or amniotic fluid, with a response time of 3-5 working days.

Another option is the Preimplantation Genetic Diagnosis (PGD). PGD ​​enables genetic diagnosis and transfers to the uterus only the healthy embryos resulting from in vitro fertilization and is advantageous over prenatal diagnosis as we avoid termination of pregnancy.


PGD ​​follows the IVF procedure. The method consists of taking and examining a single cell from the embryo on day three after fertilization when the embryo is at the 6-8 cell stage. After the genetic diagnosis, only healthy embryos are selected for implantation.

PGD requests that the genetic disorder (mutation) responsible for the disease in the family is known. About 30% of completed PGDs result in the birth of a child, as the success of each stage separately is decisive for the outcome of the overall undertaking.

The PGD method is applied exclusively for the disease for which it is carried out, in this case, Cystic Fibrosis, and does not cover any other hereditary or non-hereditary disorder of the fetus.

Sweat Test

The Sweat Test detects if someone is suffering from Cystic Fibrosis. This test measures the amount of salt (sodium chloride) in the skin’s sweat. Cystic Fibrosis sufferers have abnormally high levels of salt in their sweat. The diagnosis is usually made from infancy, as in most cases, the symptoms appear from the first days of the patient’s birth.

The test in Greece is conducted without charge in:

  • Cystic Fibrosis Unit, Agia Sofia Children’s Hospital (Athens) +30 210 7467761
  • Cystic Fibrosis Unit, Attikon Hospital + 30 210 5832044
  • Cystic Fibrosis Unit, Ippokration Hospital (Thessaloniki) tel. +30 2310-    892435

The test can be conducted in private diagnostic centers.