Genetic Testing (PGT)
What Is Preimplantation Genetic Testing (PGT) in IVF Treatment?
What Is PGT?
Preimplantation Genetic Testing (PGT) is a genetic screening method applied during IVF treatment. It enables the detection of certain genetic diseases and chromosomal abnormalities by analyzing the genetic material of the embryo at an early stage of development.
At DrHIT Cyprus IVF Center, PGT is performed as part of advanced IVF laboratory procedures to help select healthy embryos before transfer.
What Is the Purpose of PGT?
The aim of PGT in IVF treatment is to obtain information in advance about potential genetic diseases or chromosomal abnormalities that a baby may have during pregnancy and to prevent these conditions from being transmitted.
For this reason, PGT is especially recommended in cases where couples carry a known genetic risk.
PGT can:
Reduce the risk of inherited genetic diseases
Help prevent chromosomal abnormalities
Increase the likelihood of selecting a healthy embryo
Improve implantation success rates in selected patients
How Is PGT Performed?
PGT is performed during IVF treatment. After egg retrieval and fertilization, embryos are cultured in the laboratory.
When embryos reach day 3 to day 5 of development, one or more cells are removed using a biopsy technique. The extracted cells are sent for genetic analysis.
Based on the results, genetically healthy embryos are selected and transferred into the uterus.
At DrHIT Cyprus IVF Center, this process is carried out using advanced embryology laboratory systems within the framework of Cyprus IVF standards.
Types of PGT
What Is PGT-M?
PGT-M is used to detect monogenic diseases. These are disorders caused by mutations in a single gene.
Examples include:
Cystic Fibrosis
Sickle Cell Anemia
Thalassemia
Hemophilia
PGT-M is recommended for couples who are known carriers of specific inherited genetic diseases.
What Is PGT-SR?
PGT-SR is used to analyze chromosomal structural rearrangements. It is particularly recommended for couples with:
Balanced chromosomal translocations
Recurrent miscarriages
Known chromosomal structural abnormalities
PGT-SR allows the selection of embryos with a normal chromosomal structure.
What Is PGT-A?
Although not separately highlighted above, PGT-A (Preimplantation Genetic Testing for Aneuploidy) is commonly used to detect abnormal chromosome numbers.
It can identify conditions such as:
Down Syndrome
Turner Syndrome
Other chromosomal number abnormalities
PGT-A is often recommended for women over the age of 35 or couples with repeated IVF failures.
In Which Cases Is PGT Recommended?
PGT may be recommended in the following situations:
Couples who are carriers of genetic diseases
Advanced maternal age (35+)
Recurrent pregnancy loss
Previous child with genetic disorder
Repeated IVF failures
Severe male factor infertility
Family history of hereditary diseases
Which Genetic Disorders Can PGT Detect?
PGT can detect many chromosomal abnormalities and single-gene disorders.
Examples include:
Down Syndrome
Turner Syndrome
Cystic Fibrosis
Thalassemia
Hemophilia
Sickle Cell Anemia
Fragile X Syndrome
Spinal Muscular Atrophy (SMA)
Gaucher Disease
Tay-Sachs Disease
Wilson Disease
Niemann-Pick Disease
Fanconi Anemia
Beta Thalassemia
Alpha Thalassemia
With modern techniques such as NGS (Next Generation Sequencing), screening for hundreds or even thousands of genetic conditions is possible.
Frequently Asked Questions
What is Preimplantation Genetic Testing (PGT)?
PGT is a procedure performed during IVF in which embryos are genetically tested, allowing abnormal embryos to be identified and healthy embryos to be selected for transfer.
How long does PGT take?
PGT is performed during the IVF cycle and genetic analysis usually takes a few days.
Is PGT 100% successful?
While PGT significantly improves embryo selection accuracy, no medical procedure can guarantee 100% success.
Is PGT expensive?
PGT adds additional cost to IVF treatment. However, for couples at genetic risk, it may prevent serious inherited conditions and repeated pregnancy loss.
Is PGT ethical?
PGT raises ethical discussions because it involves embryo selection. However, many consider it a valuable tool for preventing severe genetic diseases.
Scientific Background
Recent advances in genetic science have made it possible to diagnose a growing number of inherited diseases. Following the mapping of the human genome, genetic testing capabilities have expanded rapidly.
Humans have 46 chromosomes and approximately 20,000–25,000 functional genes (with broader gene regions reaching much higher counts). Certain conditions, such as Cystic Fibrosis, can result from hundreds of different mutations.
PGT allows screening of embryos for known genetic risks carried by the parents. Today, expanded genetic carrier screening panels can test for hundreds of inherited disorders.
Important Considerations
PGT must be performed by experienced embryologists and genetic specialists.
Embryo biopsy carries minimal but existing risks.
Genetic counseling is strongly recommended before proceeding.
PGT improves embryo selection but does not replace prenatal testing entirely.
Conclusion
Preimplantation Genetic Testing (PGT) is an advanced genetic screening method used during IVF treatment to help reduce the risk of inherited diseases and chromosomal abnormalities.
At DrHIT Cyprus IVF Center, PGT is integrated into comprehensive IVF programs to support safer embryo selection and improve pregnancy outcomes under internationally recognized laboratory standards.
Couples considering PGT should discuss their medical history and genetic risks with a fertility specialist to determine whether this option is appropriate for them.