Genetic Treatments · Embryo Testing

Preimplantation Genetic Testing (PGT)

Preimplantation Genetic Testing (PGT) is a group of methods used during IVF to examine a limited sample of cells from an embryo for specific chromosomal or genetic risks.

  • The test type is selected according to family history and a confirmed genetic finding
  • PGT does not exclude all genetic conditions
  • Prenatal screening or diagnostic options during pregnancy are discussed separately
Laboratory embryo-biopsy procedure for preimplantation genetic testing
Understand the topic in one minute

PGT: Quick Summary

01

Test type

PGT-A, PGT-M or PGT-SR is selected according to the clinical question.

02

Required treatment

An IVF/ICSI cycle is required to create embryos and perform a biopsy.

03

Laboratory stage

Blastocyst biopsy, sample identity verification, genetic analysis and embryo freezing may be used.

04

Next step

After the report and counselling, an embryo-transfer plan is prepared for embryos considered suitable for transfer.

Key information

What Is Preimplantation Genetic Testing (PGT)?

PGT is an umbrella term for tests designed to answer a specific genetic question before embryo transfer.

In brief:

A small number of cells taken from the embryo are analysed in a genetics laboratory. The scope depends on the selected type of PGT; the result is not a guarantee regarding the embryo’s entire genetic make-up.

PGT is not a blood test independent of IVF. Oocyte collection, fertilisation, blastocyst culture, biopsy and usually embryo freezing are required.

PGT-A screens numerical chromosome status. PGT-M is developed specifically for a known genetic change in a family. PGT-SR is designed to assess whether structural rearrangements in a parent, such as a balanced translocation or inversion, may result in unbalanced chromosome content in an embryo.

The result reflects the biopsied cell sample, the platform used and the laboratory’s reporting rules. Mosaicism, no-result findings and the possibility of misclassification should be discussed during counselling.

  • Family history and available genetic reports are reviewed
  • The type of PGT and laboratory feasibility are confirmed
  • The expected embryo number and likelihood of reaching biopsy are discussed realistically
  • Options for confirmation or screening during pregnancy are planned in advance
Illustration representing preimplantation genetic testing of embryos
The purpose of PGT is to add genetic information relevant to the clinical question to embryo-transfer decision-making.
Differences between tests

What Is the Difference Between PGT-A, PGT-M and PGT-SR?

Although the tests may use the same biopsy sample, they answer different genetic questions.

Chromosome Number

PGT-A

Screens for missing or extra chromosome copies in an embryo.

  • Does not test for a specific single-gene condition
  • Is not a routine success-enhancing test for everyone
  • Mosaic and no-result reports can occur
Specific Inherited Risk

PGT-M / PGT-SR

PGT-M focuses on a single-gene condition, whereas PGT-SR focuses on unbalanced structural chromosome changes.

  • A previously confirmed genetic finding is required
  • PGT-M may require development of a case-specific test
  • Results should be interpreted with genetic counselling
Can more than one type of PGT be performed at the same time?

In some cases, PGT-A may be planned from the same biopsy sample alongside PGT-M or PGT-SR. The potential benefit, possibility of reducing the number of embryos available, cost and additional complexity of interpretation should be assessed individually.

Who should be assessed?

Who May Be Suitable for PGT?

The decision to use PGT is not made automatically based only on age or previous treatment failure.

01

Known single-gene condition

A confirmed pathogenic genetic variant in the couple or family.

02

Chromosome rearrangement carrier

A balanced translocation, Robertsonian translocation or inversion identified in one parent.

03

Aneuploidy assessment

Discussion of the potential benefits and limitations of PGT-A in selected patient groups.

04

Previous affected pregnancy or child

Assessment of recurrence risk in families with a confirmed genetic diagnosis.

05

Recurrent pregnancy loss

Targeted testing may be planned when clinical and genetic findings are appropriate.

06

Family-building plan

The number of embryos expected to be frozen, age and future pregnancy goals are considered together.

Is PGT necessary for every IVF patient?

No. In particular, routine PGT-A has not been shown to increase the chance of live birth for all IVF patients. The clinical question, potential benefit and possibility of reducing the number of embryos available should be defined clearly.

Preparation before testing

What Preparation Is Needed Before PGT?

The genetic file and IVF plan should be completed as far as possible before ovarian stimulation begins.

01

Genetic counselling

The inheritance pattern, recurrence risk, testing options and alternatives are explained.

02

Report verification

The laboratory checks whether the variant, karyotype or family diagnosis is suitable for test development or analysis.

03

Family samples

DNA samples from relatives may be required for PGT-M test development.

04

IVF assessment

Age, ovarian reserve, sperm status and expected blastocyst number are assessed.

05

Consent and result policy

Management of categories such as unaffected, carrier, affected, mosaic and no-result is discussed in advance.

06

Prenatal plan

Screening or diagnostic options that may be offered if pregnancy occurs are explained.

Step-by-step process

How Is PGT Performed?

The process requires coordination of genetic preparation with IVF and embryology stages.

01

Initial consultation and genetic file

Family history, diagnostic reports and reproductive goals are reviewed.

02

Selecting the test type

PGT-A, PGT-M, PGT-SR or an appropriate combination is selected.

03

Test preparation

When required, a case-specific PGT-M assay is designed.

04

IVF and fertilisation

Oocytes are collected and fertilised using the appropriate method.

05

Blastocyst culture

Embryos are monitored until they reach a developmental stage suitable for biopsy.

06

Embryo biopsy

A limited number of trophectoderm cells are removed while maintaining sample identity and traceability.

07

Genetic analysis

The sample is analysed in the genetics laboratory using the selected method; embryos are usually frozen while awaiting results.

08

Report and transfer plan

Results are interpreted with counselling and a frozen embryo-transfer plan is prepared for an appropriate embryo.

Timeline

How Long Does the PGT Process Take?

The timeline varies according to the test type and whether case-specific preparation is required.

01

Genetic file review

Verification of existing reports can take days or weeks.

02

PGT-M test development

Depending on the case and family samples, this may take several weeks or longer.

03

IVF stimulation

Usually takes approximately 10–14 days before oocyte collection.

04

Embryo culture and biopsy

Usually performed on days 5–7 after fertilisation.

05

Genetic reporting

Varies according to the laboratory and test type.

06

Transfer

A separate frozen embryo-transfer cycle may be planned after the result is available.

How many days do I need to stay in Cyprus?

Some initial consultations and investigations can be organised remotely. Oocyte collection generally requires a plan of approximately 10–14 days; transfer may take place during a later, shorter visit.

Factors affecting outcomes

What Affects the Outcome of PGT?

Technical completion of the test is not the same as achieving pregnancy or live birth.

01

Female age and oocyte number

Affect the number of blastocysts reaching biopsy and the number of embryos potentially suitable after testing.

02

Inheritance of the genetic risk

The chance that each embryo is affected or a carrier varies according to the inheritance pattern.

03

Embryo development

Not all fertilised oocytes reach the blastocyst or biopsy stage.

04

Biopsy and sample quality

Insufficient DNA or technical issues can lead to a no-result report.

05

Testing platform and interpretation

Mosaicism, segmental findings and laboratory thresholds can affect reporting.

06

Uterine and transfer factors

An embryo considered genetically suitable for transfer still does not guarantee implantation or live birth.

Important distinction:

Fertilisation, blastocyst development, test result, transfer, clinical pregnancy and live birth are separate stages. PGT provides information only about the selected genetic question.

Personalised cost planning

Preimplantation Genetic Testing (PGT) Costs

Cost varies according to the IVF cycle, biopsy, test type and laboratory preparation required.

01

IVF and medication

Ovarian stimulation, monitoring and oocyte collection.

02

ICSI and embryo culture

Fertilisation and laboratory monitoring through the blastocyst stage.

03

Embryo biopsy

Biopsy procedure, sample tubing and chain-of-identity documentation.

04

Genetic test

Scope of PGT-A, PGT-M or PGT-SR analysis and the number of embryos tested.

05

Test development

Case-specific preparation and family samples for PGT-M.

06

Freezing and transfer

Embryo storage and the subsequent frozen embryo-transfer cycle.

Find out what your individual plan may include

Send us your genetic reports and previous IVF results so we can explain which test may be appropriate and itemise the likely costs.

Request a PGT Plan
Laboratory and traceability

Embryo Biopsy, Identity Safety and the Genetics Laboratory in PGT

Accurate identification of the biopsy sample from embryo to genetics laboratory is a fundamental component of reliable testing.

01

Electronic witnessing

Patient, gamete, embryo, biopsy tube and report are verified within the same chain of identity.

02

Blastocyst biopsy

A limited number of trophectoderm cells are removed by a trained embryologist.

03

Sample tubing

Cells are transferred into a tube using a controlled workflow designed to minimise DNA loss and sample mix-up.

04

Vitrification

Following biopsy, embryos are stored using rapid freezing while results are pending.

05

Genetic report integration

Embryo codes and result categories are entered into the clinical record using double verification.

06

Quality and traceability

Equipment, operator, date, sample location and report amendments are documented.

Embryo biopsy and microscopy laboratory for PGT
PGT safety depends on appropriate biopsy technique, sample identity, communication with the genetics laboratory and verification of reports.
Multidisciplinary approach

PGT Treatment, Embryology and Genetics Coordination Team

IVF treatment, embryo biopsy and clinical interpretation of the genetic report require collaboration between different specialties.

Assoc. Prof. Dr Beril Yüksel
Obstetrics, Gynaecology and IVF Specialist

Op. Dr. Beril Yüksel

Coordinates ovarian stimulation, oocyte collection and transfer planning with the genetic objective.

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Dr Münevver Serdaroğulları
Scientific Director

Prof. Dr. Münevver Serdaroğulları

Coordinates genetic testing, consent, multidisciplinary workflow and scientific quality processes.

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Zafer Atayurt
Embryology Laboratory Director

Zafer Atayurt

Manages embryo culture, biopsy, vitrification, identity verification and matching of the report to the correct embryo.

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Medical genetics assessment

Clinical interpretation of genetic risk and test results should involve an appropriately qualified medical geneticist or genetic counsellor. The IVF and embryology team manages integration of testing into reproductive treatment.

Balanced information

What Are the Risks and Limitations of PGT?

PGT may aim to reduce a specific genetic risk, but it has biological and technical limitations.

01

Fewer embryos available

Not all embryos reach the blastocyst stage or are considered suitable for transfer after testing.

02

No-result test

Insufficient DNA or technical reasons may lead to consideration of re-biopsy.

03

Mosaicism

Biopsied cells may not always represent the entire embryo.

04

Misclassification

Although uncommon, false-positive or false-negative results are possible.

05

Biopsy and freezing

Although risk is low in experienced laboratories, zero risk to the embryo cannot be promised.

06

Limited scope

Genetic conditions not included in the test, de novo changes and pregnancy complications are not excluded.

Common questions

Frequently Asked Questions About Preimplantation Genetic Testing (PGT)

Key answers about PGT types, the process, results and follow-up during pregnancy.

What is PGT?

A group of tests used to assess specific chromosomal or genetic risks before embryo transfer.

Are PGT-A, PGT-M and PGT-SR the same test?

No. PGT-A assesses chromosome number, PGT-M a specific single-gene condition and PGT-SR structural chromosome imbalance.

Does PGT require IVF?

Yes. An IVF or ICSI cycle is required to create embryos and perform a biopsy.

When is embryo biopsy performed?

In current practice, it is most commonly performed at the blastocyst stage, usually on days 5–7.

Can PGT harm the embryo?

The risk is low in experienced laboratories, but zero risk from biopsy and freezing cannot be guaranteed.

Does PGT detect every genetic condition?

No. It evaluates only the genetic question within the scope of the selected test.

Can a PGT result be wrong?

Rare incorrect results, mosaicism and no-result analyses are possible.

Is prenatal testing needed after PGT?

Because PGT does not exclude every fetal genetic condition, screening and, when appropriate, diagnostic options such as CVS or amniocentesis should be discussed during pregnancy.

What happens to embryos while waiting for PGT results?

They are usually vitrified after biopsy and transfer is planned after results are available.

Does PGT increase the chance of success?

The purpose varies according to the test type and patient group. In particular, PGT-A has not been shown to increase live birth for every patient.

How many embryos are needed for PGT?

There is no fixed number. Age, genetic risk and embryo development influence the chance of finding an embryo suitable for transfer.

How long does PGT take in Cyprus?

The IVF part usually takes approximately 10–14 days; genetic preparation and reporting times vary separately according to the test type.

What is included in the cost of PGT?

IVF, medication, biopsy, testing, freezing, storage and transfer may be charged as separate items.

What does a mosaic embryo mean?

It refers to a biopsy result suggesting a mixture of cells with normal and abnormal chromosome copy-number findings; interpretation and transfer policy require specialist counselling.

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