Preimplantation Genetic Diagnosis

Obstetrician - Gynecologist - Fertility Specialist

Genetic Preimplantation Testing (PGT) is a technique in reproductive medicine used to analyse the genetic characteristics of embryos prior to embryo transfer.

It allows the assessment of specific genetic or chromosomal abnormalities within the framework of assisted reproduction and may be part of the genetic evaluation in selected cases.

Genetic Preimplantation Testing (PGT) may be considered in cases where there is a known family history of genetic disorders or chromosomal abnormalities.

It may also be part of the extended diagnostic work-up in cases of recurrent miscarriage or repeated implantation failure without an identified cause.

The indication for PGT is determined individually within the framework of genetic and reproductive medicine counselling.

The decision to undergo genetic Preimplantation Testing (PGT) is always made on an individual basis. In the context of comprehensive genetic and reproductive counselling, it is assessed whether PGT is indicated and which further steps are appropriate.

  • PGT-A (Aneuploidy Screening):
    Assessment of embryos for numerical chromosomal abnormalities (aneuploidies), i.e. the presence of extra or missing chromosomes compared to the normal chromosomal set. Examples include trisomy 21 (Down syndrome) or monosomy X (Turner syndrome).
  • PGT-SR (Structural Rearrangements):
    Identification of structural chromosomal abnormalities, such as translocations or inversions, which may lead to unbalanced genetic material in the embryo.
  • PGT-M (Monogenic Disorders):
    Detection of specific monogenic diseases with a known inheritance pattern, such as cystic fibrosis. The aim is to identify embryos without the relevant genetic mutation for potential transfer.

We’re here to assess your situation!

Genetic Preimplantation Testing can contribute to identifying embryos with specific genetic or chromosomal abnormalities and may support decision-making in assisted reproduction.

Dr. Christos Roukoudis provides guidance throughout the process, ensuring that decisions are based on comprehensive medical information and individual patient circumstances.