Prevention & Diagnosis HCFA-TEAM February 15, 2023

Prevention & Diagnosis

Cystic fibrosis is a genetic disease and can be prevented. It is recommended that all couples wishing to have a child should undergo prenatal molecular testing in time to determine if they are carriers of the disease. Also, if during pregnancy testing of the parents shows that both are carriers, the fetus should also be tested.

At the same time it is very important to diagnose patients early so that the patient can start appropriate treatments as soon as possible.

Preventive Molecular Screening

When a couple decides to have a child, it is recommended that they have the necessary molecular screening for CF to find out if they are carriers of the disease. Carriers are perfectly healthy.

Ideally, screening should be done before pregnancy and either parent can be tested to see if they are a carrier.

The test is carried out with a simple blood sample, and only a few ml of blood is needed to carry out the molecular DNA test for the disease.

Because of the high incidence of carriers, molecular screening involves the whole population, not just those with affected relatives.

Molecular testing for CF is available at the Medical Genetics Laboratory of the University of Athens, which is based at the Horemio Research Laboratory of the Aghia Sophia Children’s Hospital, at the CF Genetics Laboratory of the Athens General Hospital “Laiko” and at many private diagnostic centres.

95% of the mutations found in the Greek population are tested. The testing of 95% of mutations is not covered by insurance funds, but is offered free of charge to patients and first-degree relatives (brothers, sisters, parents) of patients. For information on the cost of the test, as well as for scheduling an appointment, please call 2107467468, 2107795553. More information on the website of the Medical Genetics Laboratory here.

Testing of 90% of the CF mutations in the Greek population, including the F508del mutation. The test is free of charge for those insured by EOPYY and other special funds, upon presentation of the necessary electronic prescription (Prenatal Genetic Screening for Cystic Fibrosis. DF508 gene mutation’, section: Preventive Prenatal Screening with test code 550000021). In all other cases, the cost is €50. Appointments are be booked via the telephone line 1535 and are only available in the mornings. For more information, please contact 2132060920, e-mail genetiki.kma@laiko.gr or visit the Laiko’s website here.

Prenatal Diagnosis

Preventive molecular testing of a couple should be done before pregnancy or in the early stages of pregnancy. This will allow those tested to receive early and appropriate genetic counselling and the option of prenatal diagnosis if both members of the couple are found to be carriers.

Prenatal diagnosis of CF, i.e. testing of the fetus, is only carried out if both members of the couple are carriers and the mutations they carry have been identified. Prenatal screening can also be carried out in couples who already have an affected child, but in whom the causative mutations have not been found. In this case, testing is indirect. Prenatal diagnosis is carried out in the Medical Genetics Laboratory after testing the parents by taking trophoblast or amniotic fluid samples, with a response time of 3-5 working days.

Preimplantation Genetic Diagnosis (PGD)

Another option available to carrier couples is PGD, which allows genetic diagnosis and transfer of only healthy embryos resulting from IVF to the uterus, and has an advantage over prenatal diagnosis in that it avoids termination of pregnancy.

PGD is carried out after IVF. The method consists of removing and examining a cell from the embryo on the 3rd day after fertilisation, when the embryo is at the 6-8 cell stage. After genetic diagnosis of CF for each cell (within 24 hours), only healthy embryos are selected for implantation.

In order to use PGD, the genetic disorder (mutation) responsible for the disease in the family must be known. Approximately 30% of completed PGDs result in the birth of a child, as the success of each individual stage is crucial to the outcome of the overall operation.

PGD only applies to the disease for which it is being performed, in this case cystic fibrosis, and does not apply to any other hereditary or non-hereditary condition of the foetus. PGD is performed in the Medical Genetics Laboratory after genetic counselling with the couple.

Newborn Screening

In 2023-2025, as part of the expansion of the National Newborn Screening Programme (EPPEN), a free pilot programme for the detection of CF and 29 other diseases will be implemented in our country.

The screening is carried out by the Institute of Child Health in all obstetric-neonatal units, clinics in the country, in the public and private sectors. It is carried out in a uniform manner and free of charge for all newborns on Greek territory.

The pilot screening for cystic fibrosis is carried out with the initial measurement of IRT in dried blood drops, followed by the method based on the time-resolved immunofluorescence technique, with subsequent measurement of PAP, if necessary, using the same technique.

It is estimated that screening for cystic fibrosis will identify approximately 20 newborns with cystic fibrosis per year.

Newborn screening, which has been carried out for about 50 years by the Institute of Child Health and covers all newborns in Greece, is not limited to the laboratory measurement of a chemical substance, but is a comprehensive service that includes confirmation of detection, diagnosis, treatment and evaluation of the affected child’s progress. It also includes genetic counselling and prevention.

* At the end of the pilot implementation of the programme (by the end of 2025), the Institute of Child Health will draw up an evaluation report containing the results of the pilot implementation and any observations, comments and possible modifications to the protocols carried out. The report will be submitted to the competent services of the Ministry of Health, so that the NCHR can express its opinion on the matter and the extension of the EPPEN can lead to its inclusion in the ministerial decision issued in accordance with the procedure provided for in the regulations in force.

Sweat Test

People with cystic fibrosis have abnormally high levels of salt in their sweat.

The Sweat Test is a test that measures the amount of salt (sodium chloride) in the sweat of the skin and detects whether someone has cystic fibrosis.

The condition is usually diagnosed in infancy, as in most cases the symptoms appear in the first few days of a person’s life.

The sweat test is carried out free of charge in certain public hospitals where there are CF centres. It is also available in private centres.

A sweat test is carried out at the Cystic Fibrosis Centre of the hospital, tel. 210-7467761

A sweat test is carried out at the Cystic Fibrosis Clinic of the hospital, tel. 210-5832044

A sweat test is carried out at the Cystic Fibrosis Department of the hospital, tel. 2310-892435