PGT – Preimlantation Genetic Testing

Preimplantation Genetic Testing is is a revolutionary procedure used to identify genetic abnormalities in embryos created with in vitro fertilization (IVF).

The goal of PGT is to select embryos predicted to be free of a specific genetic condition or chromosome abnormalities for transfer. This test provides patients with an opportunity to reduce the chance for a genetic disease in their future children prior to pregnancy.

Generally, there are 2 sub-types of PGT

1. PGT -M: Testing to avoid inheritance of a single gene disorder

This type of PGT is called preimplantation genetic testing for monogenic disorders (PGT-M) like cystic fibrosis or sickle cell anemia.

2. PGT-A and PGT-SR: Screening for chromosome abnormalities

PGT-A or PGS provides the possibility of screening embryos for possible chromosomal aneuploidies of all chromosomes.

According to the Greek legislation, Preimplantation Genetic Testing is recommended in cases:

  1. a) Parents of carriers of a balanced mutation or other chromosomal abnormality,
  2. b) Women of advanced reproductive age (>40 years) undergoing in vitro fertilization (IVF),
  3. c) Couples with a history of multiple miscarriages (≥2) during the 1st trimester of pregnancy of unknown cause,
  4. d) Couples with a history of multiple failed (≥3) IVF cycles.

Preimplantation Genetic Testing is a multi-stage method. The IVF cycle begins as always with ovarian stimulation, egg retrieval and fertilization of the eggs in the assisted reproduction unit. On the 5th or 6th  day  after fertilization, the embryos that have reached the blastocyst stage are biopsied and the cells from the biopsy are sent to the specialized genetics center to begin their analysis by the method of comparative genomic hybridization in microarrays (array-CGH). On the day of embryo transfer, only chromosomally healthy embryos are selected for transfer into the woman’s uterus.

In order to procced with any kind of PGT a special license from the National Authority of Human Reproduction is needed. This an easy going procedure that includes to fill in a special application form and wait for about 3-4 weeks for the approval.

The New Greek legislation is one of the most favorable in Europe and worldwide concerning the PGT procedure.

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