Preimplantation Genetic Diagnosis (PGD)

What is Preimplantation Genetic Diagnosis?

Preimplantation Genetic Diagnosis (PGD) is a method that has been developed for couples whose potential descendants are at risk of serious illness. Pre-implantation genetic diagnosis can be used to diagnose any chromosomal abnormality or genetic disease in one or more cells after being isolated from the embryo before being implanted in the uterus after the process of exosomatic insemination. Therefore, it is a complex process that requires great experience.

What are the conditions for the PGD application?

The basic requirement for PGD is as follows:

The pair may be faced with a risk of transfer of a genetic disease or a specific chromosomal disorder to the fetus, but at the same time one of the following reasons should be provided:

  • Unique solution for the pair to be the escape to a method of assisted reproduction due to infertility under multiple gestation holidays following a prenatal diagnosis with pathological effects of the spouse from a chronic illness which risks making the overall health condition of the woman difficult after an abortion (such as such a signal is the thalassemia).
  • Projection of moral or religious concerns for the termination of pregnancy, in so far as the pre-natal screening reveals pathological fetus The application of the PDG method is used to avoid various monogenetic diseases and chromosomes. It is worth noting that Preimplantation Genetic Diagnosis should not be confused with PGS or replace its role. Although the reliability of this technique is worth 93 %, however, there is always a margin of error which makes it necessary for the prenatal check to confirm the fetus's health.
  • Preimplantation Genetic Diagnosis (PGD) is a method that has been developed for couples whose potential descendants are at risk of serious illness.

Cell types

Identify three types of cells that can be selected for genetic diagnosis in the Preimplantation Genetic Diagnosis and are:

Polar Particle Blow shares

Cells of the outer layer of the stem cells for the biopsy of each of the above there are advantages and disadvantages. More specifically:

Biopsy of polar particles

Advantages: It is made in cells that are discarded as the fetus develops. For this reason, it is becoming more morally acceptable as a solution for the implementation of Preimplantation Genetic Diagnosis in states where the control of embryos is prohibitive. Examples of which are Italy and Germany.

Disadvantages: Difficulty in the isolation of polar particles. Any abnormalities occurring after fertilization cannot be identified, the genetic diagnosis of ova is not immediate.

Biopsy of Blow shares

Advantages: Source of embryonic genetic material from the majority of centers offering PGD.

Disadvantages: There is no clear picture of the number of cells required to evaluate the further development of the fetus,

 Biopsy of stem cells

Advantages: Allows the biopsy of a larger number of cells for a genetic analysis, thereby facilitating the diagnosis. Through receiving a higher number of cells, a more representative picture of the embryo is ensured in the cells that are being analyzed, and in this way it limits the risk of a mosaism error.

Disadvantages: Difficulty of biopsy at the specific stage of fetal development, restriction on time of genetic diagnosis.

Dr. Athanasios Papanikolaou is Gynecologist Special Assisted Reproductive with many years of experience in Greece and abroad. The doctor applies the most modern methods of assisted reproduction, with respect to the particular needs of each woman. Schedule your own appointment with the doctor and discover the proper method for you.


Athanasios G. Papanikolaou
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Athanasios Papanikolaou

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