PGT – Preimplantation Genetic Testing

What is PGT?

Nowadays, Preimplantation Genetic Testing (PGT) method is used to identify embryos with healthy chromosomal structures during the process of in vitro fertilisation (IVF), and these identified embryos are transferred to the mother's uterus.

This method enhances the success rate of IVF by increasing the likelihood of a healthy embryo attaching to the uterus, thus potentially preventing inherited genetic disorders from being transferred to your baby before pregnancy occurs.

PGT is suitable for the following couples:

  • Those with inherited genetic disorders or carriers of such conditions,
  • Genetic diseases related to gender,
  • Advanced maternal age,
  • Severe male factor infertility,
  • Recurrent pregnancy loss,
  • Repeated IVF failures,
  • History of pregnancies with anomalies,
  • All couples aim to shorten the time to achieve a healthy pregnancy.

PGT Process: How does it work?

PGT application is performed simultaneously with in vitro fertilisation (IVF). It involves the fertilisation of egg and sperm cells in a laboratory setting, resulting in embryo formation.

The PGT procedure can be conducted either during the 6-8 cell stage (Day 3) or the blastocyst stage (Day 5 or 6) following a biopsy method carried out by experienced embryologists. T

he PGT process entails the investigation of the genetic material from cells obtained through embryo biopsy, followed by the reporting of results by specialists. Subsequently, the embryos reported to have healthy chromosomal structures are assessed for their suitability for transfer, and the transfer procedure is scheduled.

At Ventus IVF Center, the PGT methods offered are as follows:

FISH: Fluorescence In Situ Hybridization

This method is used for the most commonly encountered numerical chromosomal abnormalities in the community (PGD). During the 6-8 cell stage of the embryo (Day 3), a biopsy of one blastomere cell is taken to detect certain chromosomal abnormalities, aiming for the identification of healthy embryos before transfer. This method is applied to identify some trisomies like Down syndrome or monosomy-based diseases such as Turner syndrome commonly observed in the population. The disadvantage of this method is the ability to analyse a maximum of 5-9 pairs of chromosomes, including sex chromosomes, whereas normal human cells contain 23 pairs, totaling 46 chromosomes. Its most significant advantage is enabling the possibility of transferring fresh embryos in the treatment cycle.

PGT-A: Preimplantation Genetic Testing for Numerical Chromosomal Abnormalities

PGT-A aims to increase the success rate of IVF, especially in cases of recurrent pregnancy loss due to advanced maternal age or severe male factor infertility.

This method involves the biopsy of 7-8 cells from the layer of cells called trophectoderm in the blastocyst stage (Day 5 or 6 of embryo development). These cells are then analysed using the most advanced technique known as Next Generation Sequencing (NGS)* available today. This method allows for the examination of embryos to identify those with the normal chromosomal count (known as Euploid, containing 46 chromosomes) before transfer. The advantage of this method is the scanning of all 46 chromosomes (23 pairs) present in human cells. However, a disadvantage is that after the embryo biopsy, embryos need to be frozen until the test results are obtained (requiring approximately a 2-week period), and the embryo transfer is carried out in the subsequent cycle. *Further details about NGS are provided below. Example: It is applied for the detection of diseases originating from trisomy or monosomy (having more or fewer than 46 chromosomes, known as Aneuploidy), such as Down syndrome.

PGT-M: Preimplantation Genetic Testing for Single Gene Disorders

This test is employed to prevent the transmission of diagnosed single gene disorders (diseases caused by mutations in a single gene) or carrier status of individuals or couples, thereby eliminating the possibility of passing the disease to the baby before pregnancy. During the blastocyst stage (Day 5 or 6 of embryo development), this method involves the biopsy of 7-8 cells from the layer of cells called trophectoderm. The aim is to select embryos without the known mutation, identifying healthy embryos for transfer before making the selection. Examples of such disorders include Thalassemia, Cystic Fibrosis, Spinal Muscular Atrophy (SMA), Hemophilia A and B.

PGT-SR: Preimplantation Genetic Testing for Structural Chromosomal Abnormalities

This test is applied to eliminate the possibility of transmitting structural abnormalities such as chromosomal translocations and inversions, diagnosed in individuals or couples, to the baby. Similar to other PGT methods, during the blastocyst stage (Day 5 or 6 of embryo development), the procedure involves the biopsy of 7-8 cells from the trophectoderm. The goal is to identify embryos with a healthy chromosomal structure for transfer before the selection process.

In rare cases where the affected area on the chromosome is in a size or location that cannot be detected using the NGS technique, the FISH technique can be preferred for analysis.

Meet our experts in the reproductive medicine field

Assoc. Prof. Beril Yuksel

Assoc. Prof. Beril Yuksel

Obstetrics, Gynecology and IVF Specialist
Zafer Atayurt

Zafer Atayurt

Embryology Laboratory Director