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Pre - implantation Genetic Diagnosis (PGD)

What is PGD?
As the name implies, it is the screening for potential genetic defects in the developing embryo, carried out before implantation into the womb.

Why PGD?
It is well-documented that 50% of eggs from women under the age of 39 and 75% of eggs from women over the age 39 carry numerical abnormalities, known as aneuploidies. These form the cause of Down syndrome, as well as other less common syndromes such as Patau, Edwards and Turner.

Although we can detect all of those syndromes at prenatal diagnosis, we believe that the significant trauma of terminating a pregnancy at a later stage and the difficult issues involved with this decision are eliminated if the majority of potential genetic defects are screened out before implantation.

What do we test for? Using a technique called array-CGH, we screen the entire genome for any whole- or part-chromosome imbalance. Our method will screen ALL 46 chromosomes to detect whole or partial imbalance. We can also concurrently test for the most common mutation for cystic fibrosis ΔF508, and b-thalassaemia.

Who is this test recommended for?
Anyone can opt for PGD. However, because of the cost of IVF and the genetic screening, it may not be an appropriate test for younger couples who have no difficulty conceiving, and those with no family history of genetic disease.

You may wish to consider PGD if you are in one of the following categories:

  • a woman over the age of 39
  • a couple where either partner is a known carrier of a chromosome abnormality, such as a translocation.
  • A couple where either partner is a known carrier of a heritable genetic disorder (cystic fibrosis, b-thalassaemia etc.)
  • A female carrier of an X-linked disorder
  • A couple whose religious or personal beliefs forbid terminating a pregnancy.


How is PGD carried out?
pgdThe test is done in conjunction with well-known IVF clinics based in the vicinity of the laboratory. Please contact the lab to receive further contact details. Following controlled ovarian stimulation, the eggs are taken out of the womb, fertilized in vitro (IVF) and allowed to develop until day 3. At the stage of the blastomere (8-cell embryo), one cell is removed from the developing embryo and tested at Genomedica.

If this single cell is healthy, the possibility of the whole embryo being healthy is very high. In the event that we detect an abnormality in this cell, the entire embryo will not be used for implantation. We can test several embryos simultaneously. Only healthy embryos will be implanted.

We carry out our test in 12 hours – this means that healthy embryos will be implanted without the need for freezing embryos, thus increasing their viability.

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We are currently the only Clinical Genetics laboratory in Greece offering this test, using this methodology, which has an abnormality pick-up rate ~ 20% better than other existing PGD tests.

Please note that this test has a success rate of 89%, i.e. a result will not be obtained in 1 out of 11 cells examined. However, as we screen several embryos at once from one patient, it is very unlikely that we will not obtain a result on at least some of the embryos.

 
   
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