Before testing
Inheritance, recurrence risk, test scope and alternatives are explained.
Genetic Treatments · Decision Support Before and After Testing
Reproductive Genetic Counselling
Genetic counselling brings together family history, genetic test results and reproductive goals so that risks, options and uncertainties can be explained clearly.
- Family history and genetic reports are interpreted together
- Options to proceed with or without PGT are explained impartially
- A plan is prepared for post-test results and confirmation during pregnancy
Understand the topic in one minute
Genetic Counselling: Quick Summary
Case preparation
Reports, family pedigree and required samples are organised.
After testing
Results such as unaffected, carrier, affected, mosaic or uncertain are interpreted.
Pregnancy plan
Prenatal screening and diagnostic options are considered according to individual preferences.
Key information
What Is Genetic Counselling?
A structured healthcare service that connects genetic information with personal and family decision-making.
In brief:
Genetic counselling translates family history and test results into understandable language, explains risk numerically and verbally, compares testing options and supports people in making decisions consistent with their own values.
In reproductive genetics, counselling is not simply about ordering a test. Which test answers the clinical question, what the test cannot show and which decisions the result may influence are discussed in advance.
For case-specific tests such as PGT-M, the clinical meaning of the family variant, inheritance pattern, required relative samples and laboratory feasibility are assessed. For PGT-A, routine use, mosaicism and the possibility of reducing the number of embryos available are discussed in a balanced way.
Counselling should be non-directive. Options such as natural conception, prenatal diagnosis, PGT, gamete donation, embryo donation, adoption or choosing not to pursue pregnancy can be considered in the context of personal values and medical circumstances.
- Complete copies of all available genetic reports are collected
- At least a three-generation family history is prepared
- The purpose of testing and possible result categories are documented
- Post-result transfer and prenatal follow-up plans are discussed in advance
Differences between tests
What Is the Difference Between Genetic Counselling and Genetic Testing?
Testing generates data; counselling explains what the data mean, their limits and how they may affect decisions.
Genetic Counselling
Considers risk, options, uncertainty, family implications and personal values together.
- Provided before and after testing
- Supports non-directive decision-making
- Considers implications for family members
Genetic Testing
Investigates a defined genetic finding in blood, saliva or embryo samples.
- Has a specific technical scope
- Can produce incorrect or uncertain results
- Is not a clinical decision by itself
Is genetic counselling only for patients having PGT?
No. It may also be useful for carrier status, recurrent miscarriage, a family history of genetic disease, a karyotype finding, advanced parental age, a previous affected pregnancy or an uncertain test result.
Who should be assessed?
Who Is Reproductive Genetic Counselling Recommended For?
Assessment may be appropriate whenever a genetic risk or test result could influence reproductive decision-making.
Genetic condition in the family
A known or suspected inherited condition in the family.
Carrier couples
Couples carrying variants for the same recessive condition or an X-linked risk.
Karyotype finding
A translocation, inversion or another chromosome rearrangement.
Recurrent pregnancy loss
A genetic finding in a parent or pregnancy tissue.
Patients considering PGT
Those wishing to understand the potential benefits and limitations of PGT-A, PGT-M or PGT-SR.
Uncertain test result
Situations requiring interpretation of a VUS, mosaic or unexpected genetic finding.
Does genetic counselling mean that I have to undergo genetic testing?
No. Counselling supports people in understanding information and options so that they can make their own decision. Choosing not to test is also a valid part of the process.
Preparation before testing
How Should I Prepare for a Genetic Counselling Appointment?
Complete documentation helps improve risk assessment and can reduce unnecessary repeat testing.
Genetic reports
Full copies of karyotype, panel, exome, carrier-screening or previous PGT results.
Family history
Diagnoses and pregnancy losses in parents, siblings, children and close relatives.
Pregnancy history
Records of miscarriage, stillbirth, prenatal diagnosis and congenital differences.
IVF history
Oocyte, blastocyst, biopsy and transfer outcomes.
Medical records
Relevant specialist reports, pathology or imaging findings.
Personal questions
Priorities relating to test purpose, cost, timing, privacy and result management.
Step-by-step process
How Does Genetic Counselling Work?
The consultation is a broader decision-making process than simply gathering information and sharing a result.
Defining the reason for referral
The family’s main question and reproductive goal are identified.
Family pedigree
At least a three-generation pedigree and relevant health history are prepared.
Report review
The variant, karyotype or test result is verified.
Risk assessment
The inheritance pattern and individual recurrence risk are explained.
Comparing options
Natural conception, prenatal testing, PGT and other reproductive options are considered.
Consent and testing plan
The selected test’s scope, limitations and possible results are documented.
Results consultation
The clinical meaning of the report and implications for family members are explained.
Follow-up plan
Embryo transfer, pregnancy testing, prenatal diagnosis or family testing is planned when appropriate.
Timeline
How Long Does Genetic Counselling Take?
One consultation may be sufficient, while PGT-M cases or uncertain results may require more than one appointment.
Initial consultation
A structured assessment according to the complexity of the file.
Completing documentation
Collection of missing genetic reports or family samples.
Laboratory review
Technical feasibility assessment for PGT-M or PGT-SR.
Testing process
Completion of the selected genetic test.
Results counselling
Reassessment of the report and available options.
Pregnancy follow-up
Additional consultation when considering prenatal screening or diagnosis.
How many days do I need to stay in Cyprus?
Genetic counselling can often be provided online. There is no need to remain physically in Cyprus for counselling alone; if IVF or another procedure is planned, a treatment-specific visit schedule is prepared.
Factors affecting outcomes
What Influences the Quality of Genetic Counselling?
The aim is not to produce one “correct decision”, but to create an informed decision-making process that is appropriate for the individual.
Accuracy of the report
Incomplete or incorrect variant information can change the risk assessment.
Family history
A detailed pedigree can help clarify the inheritance pattern and need for additional testing.
Specialist expertise
Experience in reproductive genetics and PGT is important for complex results.
Non-directive communication
Options should be presented clearly without directing the patient towards a particular choice.
Explaining uncertainty
VUS findings, reduced penetrance and mosaicism should be discussed realistically.
Follow-up and coordination
Accurate information transfer between genetics, IVF, embryology and pregnancy-care teams is essential.
Important distinction:
The success of genetic counselling is not measured by how often people choose testing, but by whether they understand risks, alternatives and uncertainties well enough to make a decision consistent with their own values.
Personalised cost planning
Genetic Counselling Costs
Cost may vary according to file complexity, number of consultations and any additional laboratory review.
Initial consultation
Assessment of family history, reports and genetic risk.
Pedigree analysis
Multiple affected family members or a complex inheritance pattern.
Report review
Specialist interpretation of karyotype, panel, exome or PGT reports.
Laboratory coordination
PGT-M test development or PGT-SR feasibility review.
Results counselling
Explanation of a new report and development of a decision plan.
Follow-up consultation
Planning embryo transfer or prenatal testing during pregnancy.
Find out what your individual plan may include
Send your genetic reports in advance so the scope of the consultation and need for any additional review can be clarified beforehand.
Laboratory and traceability01 02 03 04 05 06
Genetic Reports, Data Security and Clinical Traceability
Genetic information is sensitive health data that can affect not only the individual but also family members.
Report verification
The laboratory name, sample, method, variant and classification are checked.
Family relationship
The family member to whom the report belongs and the relationship are recorded accurately.
Version tracking
Variant classifications and report revisions are documented.
Privacy
Genetic data are accessible only to authorised team members and are shared according to consent.
Embryo matching
The PGT report is verified against the correct embryo and patient record.
Prenatal communication
The pregnancy-care team receives accurate information about the test scope and residual risks.
Multidisciplinary approach
Genetic Counselling and IVF Coordination Team
Integrating genetic risk into reproductive treatment requires collaboration between clinical, embryology and appropriately qualified genetics professionals.
Obstetrics, Gynaecology and IVF Specialist
Op. Dr. Beril Yüksel
Assesses how genetic risk may affect ovarian stimulation, embryo planning and transfer timing.
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Scientific Director
Prof. Dr. Münevver Serdaroğulları
Coordinates genetic counselling, scientific quality, consent and multidisciplinary communication.
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Embryology Laboratory Director
Zafer Atayurt
When PGT is planned, manages biopsy, freezing, reporting and the embryo-identity chain.
View profile →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 Limitations of Genetic Counselling?
Genetic information does not always provide a definite prediction and may change as scientific knowledge develops.
Uncertain result
A VUS or reduced penetrance does not provide a definite prediction of disease.
Incomplete family information
Relatives without a diagnosis or available reports can limit risk assessment.
Test scope
A negative result does not exclude all genetic conditions.
Changing classification
Variants may be reclassified as new evidence becomes available.
Emotional impact
Results may create guilt, anxiety or difficulties in family communication.
Differences in law and regulation
Testing, data sharing and reproductive options can vary according to the regulations of the relevant country.
Common questions
Frequently Asked Questions About Genetic Counselling
Answers about who may benefit, what happens during a consultation and how results are managed.
What is genetic counselling?
A structured healthcare service that assesses family history and genetic test results and explains risks, options and uncertainties.
Who may need genetic counselling?
It may be recommended for people with a family history of genetic disease, carrier status, a karyotype finding, recurrent miscarriage or a plan for PGT.
Is testing performed during the consultation?
Available information is reviewed first; appropriate testing options may then be recommended when needed.
Does genetic counselling make PGT mandatory?
No. All options, including proceeding with or without PGT, are considered impartially.
Why is a family pedigree prepared?
It helps clarify inheritance patterns, affected relatives and the need for additional testing.
What does VUS mean?
A classification used when current evidence is insufficient to determine whether a genetic change is associated with disease.
Does a negative genetic test guarantee a healthy child?
No. Genetic changes outside the test scope or newly arising changes may still occur.
Can a genetic report change over time?
Variant classifications may be updated as new scientific evidence emerges.
Is genetic counselling useful after PGT?
Yes, particularly for carrier, mosaic, no-result or complex reports.
Why is prenatal testing discussed after PGT?
PGT does not exclude all fetal genetic conditions and there is a small possibility of an incorrect result.
Which documents should I bring to genetic counselling?
Genetic reports, diagnoses in family members, karyotypes, pregnancy history and previous IVF results.
Can genetic counselling be provided online?
Yes, for many cases; original reports can be shared securely in advance.
How long do I need to stay in Cyprus for genetic counselling?
No stay is required for counselling alone; if IVF or another procedure is planned, a separate schedule is prepared.
What affects the cost of genetic counselling?
File complexity, number of consultations, report review and laboratory coordination.