Vita Altera IVF Center
Genetic Diagnosis in Cyprus: PGT-A, PGT-M, and PGT-SR
Preimplantation genetic testing is a laboratory procedure that allows embryos created through IVF to be screened for specific chromosomal or genetic characteristics before transfer to the uterus. At the Vita Altera IVF Center in Cyprus, the genetic diagnosis process is tailored to each individual, based on the couple’s age, genetic history, carrier status, previous pregnancies, IVF outcomes, and the specific type of PGT to be performed.
Preimplantation Genetic Testing — What is PGT?
Preimplantation genetic testing involves examining cell samples taken from embryos created during IVF in the laboratory for specific chromosomal or genetic conditions.
PGT is not a standalone method for achieving pregnancy. To perform the test, it is first necessary to stimulate the ovaries with medication, retrieve the eggs, fertilize them with sperm cells, and allow the embryos to reach the appropriate developmental stage in the laboratory.Embryo biopsy is typically performed on embryos that have reached the blastocyst stage, by removing a few cells from the outer cell layer (which will later form the placenta). The aim is to avoid directly interfering with the inner cell mass that will form the fetus.After the biopsy, the embryo is usually frozen and stored using vitrification. Once the genetic analysis is complete, an embryo deemed suitable for transfer based on the test results can be thawed and transferred in a subsequent treatment cycle after preparing the uterus.Is PGT the same as genetic screening?PGT is a broad umbrella term. PGT-A is a screening approach targeting chromosome number. PGT-M is used to investigate specific single-gene disorders, while PGT-SR is used to detect imbalances associated with known chromosomal structural rearrangements.
Genetic Diagnosis and the PGT Process in Cyprus
The genetic diagnosis process in Cyprus consists of genetic counseling, IVF treatment, embryo biopsy, genetic laboratory analysis, result evaluation, and the transfer of suitable embryos.
At the Vita Altera IVF Center, the couple’s personal and family medical history, available genetic reports, chromosome analyses, carrier screening results, and information from previous pregnancies are evaluated before treatment.For patients planning PGT-M or PGT-SR, the genetic laboratory may need to prepare before the IVF treatment begins. This may involve documenting the known genetic alteration, obtaining samples from family members, or designing a patient-specific test.Patients coming from Turkey or other countries can share their existing genetic and IVF reports before an online consultation. After reviewing the documents, missing tests, laboratory preparation, and a tentative treatment schedule can be determined.01
Genetic Pre-Assessment
Evaluation of personal and family medical history, genetic test results, and the type of PGT being considered.02
Embryo Biopsy
A cell sample is taken from embryos that have reached the appropriate developmental stage by experienced embryologists for genetic analysis.03
Personalized Transfer
A transfer plan is created by evaluating genetic results, embryo development, and uterine preparation together.What is the Difference Between PGT-A, PGT-M, and PGT-SR?
The PGT method to be applied is determined by the type of genetic condition being investigated. Each test examines different diseases or chromosomal changes.
PGT-A
Applied to assess the chromosome number in embryos. Helps identify embryos suspected of having missing or extra chromosomes.PGT-M
Applied to assess the risk of transmitting a known, specific single-gene disorder or pathogenic genetic variant to the embryo.PGT-SR
Investigates unbalanced chromosomal structures in embryos when one partner has a chromosomal structural rearrangement, such as a translocation or inversion.Can multiple PGT tests be performed on the same embryo?Depending on medical necessity and the laboratory’s technical capabilities, PGT-A evaluation can be planned alongside PGT-M or PGT-SR. The scope of the test, the methods used, and the limitations of the results should be explained before treatment.
What is PGT-A?
PGT-A is an abbreviation for preimplantation genetic testing for aneuploidy. It aims to assess whether embryos have a numerical excess or deficiency of chromosomes.
Human cells normally have a total of 46 chromosomes, arranged in 23 pairs. An embryo having a missing or extra chromosome is termed aneuploidy.Embryos with a normal chromosome number within the scope of PGT-A are reported as euploid, while those with identified chromosome number changes are reported as aneuploid.Some embryo biopsies may show intermediate results where both normal and abnormal chromosome signals are present together. These results may be termed mosaic and require further genetic counseling.Does PGT-A detect all genetic diseases?No. PGT-A is primarily used to assess chromosome number changes. It does not detect single-gene disorders, all minor genetic variations, congenital anomalies, or all potential future health problems.
Who Might Consider PGT-A?
The decision for PGT-A should not be based solely on age or a single previous failed treatment. Factors such as the number of embryos available, ovarian reserve, previous pregnancies, and the couple’s treatment goals are all evaluated together.
- Women of advanced reproductive age undergoing IVF
- Couples with a history of recurrent pregnancy loss of chromosomal origin
- Patients who had a previous pregnancy with a chromosomal anomaly
- Patients with multiple blastocysts where transfer prioritization is planned
- Some couples prioritizing single embryo transfer
- Suitable patients planning to accumulate embryos for multiple children
- Cases deemed appropriate by the physician and genetic specialist upon individual assessment
Should PGT-A be applied to every IVF patient?No. It has not been conclusively proven that routine application of PGT-A to all IVF patients increases the overall chance of live birth. Especially in patients with a low number of embryos, the potential number of embryos available for biopsy and the overall treatment potential must be carefully evaluated.
What is PGT-M?
PGT-M is an abbreviation for preimplantation genetic testing for monogenic conditions. It is applied to assess the risk of transmitting a specific single-gene disorder or known genetic variant to the embryos.
For PGT-M to be planned, the genetic alteration causing the disease in the family usually needs to have been previously identified and documented.The genetic laboratory can develop a patient-specific test system by evaluating the couple’s genetic results, the inheritance pattern, and samples from family members if necessary.After preparation is complete, biopsies are taken from embryos created through IVF, and the embryos are examined for the specified genetic condition.Why is PGT-M preparation done before IVF?PGT-M is not a standard panel that can be applied the same way for every family. Developing a personalized test may be necessary to identify the disease-causing genetic variant and its transmission pattern within the family. It is often recommended not to start ovarian stimulation before this preparation is complete.
Which Diseases Can PGT-M Be Used For?
PGT-M can be considered for many hereditary diseases where the genetic cause and the variant within the family have been identified. Not every disease or genetic change is technically suitable for PGT-M.
Beta Thalassemia
If disease-associated variants in the HBB gene are known, embryos can be evaluated for beta thalassemia.Cystic Fibrosis
Transmission of known disease-associated variants in the CFTR gene to embryos can be investigated.Spinal Muscular Atrophy
Carrier status and disease risk associated with the SMN1 gene can be evaluated after appropriate genetic preparation.Sickle Cell Disease
If an HBB variant is identified in the family, embryos can be examined for disease and carrier status.Hemophilia
Suitable PGT-M approaches can be considered when a familial disease variant associated with the F8 or F9 genes is identified.Some Hereditary Cancer Syndromes
PGT-M for specific, documented high-risk genetic variants should be addressed with ethics, medical evaluation, and genetic counseling.Is a carrier screening result alone sufficient?The necessity of PGT-M depends on the inheritance pattern of the disease. For an autosomal recessive disease, the carrier status of both partners is assessed; for an autosomal dominant disease, the risk of the person carrying the relevant variant is considered.
What is PGT-SR?
PGT-SR is an abbreviation for preimplantation genetic testing for structural rearrangements. It aims to assess whether a chromosomal structural rearrangement found in one partner leads to an unbalanced chromosome structure in the embryos.
A person carrying a balanced chromosome rearrangement can be completely healthy; however, during the formation of their egg or sperm cells, there is a possibility that chromosomal material is transferred to the embryo in an unbalanced way.Unbalanced embryos may fail to implant, cause early pregnancy loss, or be associated with a chromosomal health issue.PGT-SR can help identify embryos suitable for transfer that are chromosomally balanced or compatible with a normal result. Depending on the test method used, a normal embryo and a balanced carrier embryo may not always be distinguishable from each other.Is a balanced translocation a disease?Individuals carrying a balanced translocation typically do not experience health problems because genetic material is generally neither lost nor gained. However, reproductive counseling may be necessary regarding pregnancy establishment, miscarriage risk, and the risk of embryos with unbalanced chromosome structures.
Who is PGT-SR Applicable For?
PGT-SR is mostly considered when a structural rearrangement is identified in the chromosome analysis of the prospective mother or father.
- Couples where one partner is a carrier of a reciprocal translocation
- Individuals who are carriers of a Robertsonian translocation
- Patients with chromosomal inversion carrier status
- Couples with a chromosomal change identified after recurrent pregnancy loss
- Couples who have previously had a pregnancy with an unbalanced chromosome structure
- Those with a family history of known chromosomal structural rearrangements
- Patients deemed suitable by a genetic specialist following chromosome analysis
Why is a karyotype test necessary?Karyotype analysis helps assess the number and major structural features of chromosomes. Documenting which chromosomes and regions are affected by the rearrangement is necessary to prepare a PGT-SR plan.
Who is Suitable for Genetic Diagnosis?
There is no single standard patient group for PGT application. The type of test and its necessity are determined based on the couple’s genetic history and treatment characteristics.
- Couples known to carry a single-gene disorder
- Individuals with a family history of serious hereditary diseases
- Carriers of chromosomal translocations or inversions
- Couples who had a previous pregnancy affected by a genetic or chromosomal disorder
- Patients experiencing recurrent miscarriages of chromosomal origin
- Suitable patients of advanced reproductive age undergoing IVF
- Couples with multiple embryos where embryo prioritization is planned
- Families at risk of a serious genetic disease linked to sex chromosomes
- Patients deemed suitable jointly by the genetic specialist and IVF doctor
Can PGT be done without infertility?Yes. Some couples may not have problems conceiving naturally, but they might need to consider IVF and PGT due to the high risk of transmitting a serious genetic disease.
Why is Genetic Counseling Important Before PGT?
Genetic counseling ensures that the couple correctly understands the purpose of the test, the inheritance pattern, potential results, limitations, and alternative reproductive options.
Disease Transmission Risk
Explains whether the genetic disease follows an autosomal recessive, autosomal dominant, X-linked, or other inheritance pattern.Embryo Outcomes
Discusses the possible embryo outcomes: affected, carrier, unaffected, euploid, aneuploid, mosaic, or inconclusive.Test Limitations
Explains which genetic conditions the test can detect and which health issues it does not assess.Alternative Options
Discusses alternatives such as natural conception with prenatal diagnosis, donation options, or IVF without PGT.A genetic test result is not a final decisionPGT results should be interpreted with medical and genetic counseling. Especially for results indicating carrier status, mosaicism, uncertainty, or technical limitations, the embryo transfer decision must be made on an individual basis.
Which Tests Are Performed Before PGT?
The tests requested may vary depending on the type of PGT to be performed, the disease known in the family, and the couple’s health status regarding IVF treatment.
Genetic Evaluations
- Consultation with a genetic specialist
- Genetic test reports of the prospective parents
- Karyotype (chromosome analysis)
- Molecular report on the known genetic variant
- Carrier screening tests
- Genetic reports from previous pregnancies or children
- DNA samples from family members, if necessary
- PGT laboratory pre-assessment evaluation
IVF Evaluations
- Gynecological examination and ultrasound
- AMH and ovarian reserve tests
- Antral follicle count
- Semen analysis
- Infectious disease screenings
- Evaluation of the uterus and endometrial lining
- Thyroid and necessary general health tests
- Previous IVF and embryology reports
Why might samples from family members be requested for PGT-M?To track the transmission of the genetic change within the family and to more reliably assess the relevant gene region in the embryo, DNA samples from parents, a child, or another family member may be required for some diseases.
How is the Genetic Diagnosis Process in Cyprus Performed?
The PGT process is a multi-stage program comprising genetic preparation, IVF treatment, embryo biopsy, genetic analysis, and frozen embryo transfer.
1
Initial Consultation and Medical Evaluation
The couple’s medical history, age, previous pregnancies, IVF results, and genetic test reports are reviewed.2
Genetic Counseling
The disease or chromosomal change to be investigated, inheritance risk, test options, and possible outcomes are evaluated.3
PGT Laboratory Preparation
For PGT-M and some PGT-SR cases, the genetic laboratory reviews the reports and completes the necessary patient-specific test preparation.4
Controlled Ovarian Stimulation
To obtain multiple eggs, the prospective mother is administered hormonal medications appropriate for her age and ovarian reserve.5
Follicle Development Monitoring
The ovarian response to treatment is monitored with ultrasound and necessary blood tests. Medication dosages can be adjusted based on results.6
Egg Retrieval
Eggs in follicles that have reached appropriate development are collected via ultrasound-guided egg retrieval.7
Fertilization
Mature eggs are fertilized in the laboratory with suitable sperm cells. Microinjection (ICSI) may be used depending on the treatment plan.8
Embryo Development Monitoring
Embryos developing from fertilized eggs are monitored by experienced embryologists until they reach the blastocyst stage.9
Embryo Biopsy
A few cells are taken from the outer cell layer of blastocysts suitable for biopsy for genetic examination.10
Embryo Freezing
After biopsy, embryos are stored using vitrification until the genetic test results are complete.11
Genetic Laboratory Analysis
The cell samples obtained are analyzed for chromosomal or specific genetic changes according to the type of PGT applied.12
Result Evaluation
Genetic results are evaluated alongside embryo development information, and embryos that can be prioritized for transfer are identified.13
Uterine Preparation for Transfer
The prospective mother’s endometrial lining is prepared for embryo transfer via a natural or medicated cycle.14
Frozen Embryo Transfer
The embryo with a suitable result is thawed, its viability is assessed, and it is transferred to the uterus.15
Pregnancy and Prenatal Follow-up
If pregnancy occurs, standard prenatal follow-ups, along with prenatal screening or diagnostic tests recommended by the doctor and genetic specialist, are further evaluated.How is Embryo Biopsy Performed?
Embryo biopsy is a sensitive embryology laboratory procedure that allows a limited number of cells to be taken from a suitably developed embryo for genetic testing.
In current practice, biopsy is usually performed when the embryo reaches the blastocyst stage on the fifth, sixth, or, in suitable cases, seventh day.A few cells are separated from the outer cell layer of the embryo. The removed cells are sent to the genetic laboratory, while the embryo is frozen using vitrification.Embryo biopsy requires an experienced team and appropriate laboratory conditions. Even when performed carefully, the possibility of the embryo being affected by the biopsy, freezing, or thawing stages cannot be completely eliminated.Is the biopsy taken from the cells that will form the baby?In blastocyst biopsy, the sample is usually taken from the trophectoderm layer, which will contribute to the placenta in the future. The aim is to avoid direct intervention on the inner cell mass that will form the baby.
What is Genetic Analysis with NGS?
Next-Generation Sequencing (NGS) is one of the laboratory technologies that can be used to analyze genetic material obtained from embryo biopsies for specific chromosomal or genetic characteristics.
In PGT-A applications, NGS can be used to broadly assess the numerical status of chromosomes.The technique used for PGT-M or PGT-SR applications is not limited solely to the name NGS. Depending on the type of disease and genetic change, linkage analysis, variant analysis, or different molecular methods may be necessary.The analysis platform and the laboratory’s reporting thresholds can affect the classification of results. Interpretation of mosaic and segmental results, in particular, may vary between laboratories.Does NGS detect all genetic diseases in a single test?No. The test only evaluates the chromosomal or genetic changes within the scope of the planned analysis. It does not detect all variants in the genome, all congenital diseases, or all future health problems.
How are PGT Results Interpreted?
PGT results can be reported using different terms depending on the type of test, laboratory method, and the genetic condition being investigated.
Euploid Result
Indicates that the chromosome numbers evaluated within the scope of PGT-A are found to be compatible with a normal result.Aneuploid Result
Indicates that a result was obtained suggesting that one or more chromosomes are missing or extra in the examined cells.Mosaic Result
Refers to an intermediate result suggesting that signals from cells with different chromosomal structures are present together in the biopsy sample.Inconclusive Result
Indicates that no interpretable result could be obtained for the embryo due to insufficient DNA, technical reasons, or analysis quality.PGT-M Unaffected Result
May indicate that the genetic result associated with the investigated familial disease was not detected in the embryo.Carrier Result
May indicate that the embryo is a carrier for a specific recessive disease but is not expected to be affected by the disease.Does a euploid embryo guarantee pregnancy?No. A euploid result only indicates that a suitable result was obtained for the tested cells and the chromosomes within the analysis scope. Embryo development, uterine structure, the transfer process, and other biological factors can affect the pregnancy outcome.
What Does a Mosaic Embryo Mean?
A mosaic result is a laboratory finding suggesting that the cell sample taken from the embryo biopsy contains signals from both normal cells and cells carrying chromosomal changes.
Because the biopsy is taken from only a small part of the embryo, the test result may not precisely reflect the distribution of cells throughout the entire embryo.The chances of implantation and ongoing pregnancy for mosaic embryos may be lower than for euploid embryos; however, it is known that some mosaic embryos have resulted in healthy births.The decision to transfer should be made by evaluating the affected chromosome, the type of change, the mosaic rate, whether it’s a segmental or whole chromosome change, the availability of other embryos, and the couple’s preferences.Can a mosaic embryo be transferred?In some situations where no euploid embryos are available, mosaic embryo transfer may be considered after genetic counseling. Before transfer, the uncertainty of the results, pregnancy potential, and prenatal testing options should be explained in detail.
What Happens to an Embryo with an Inconclusive Result?
For some embryo biopsies, an interpretable genetic result may not be obtained due to insufficient DNA or technical reasons.
An inconclusive result does not mean the embryo is genetically normal or abnormal. The embryo is evaluated as having an undetermined genetic status.Based on the embryo’s developmental characteristics, biopsy history, and the couple’s current number of embryos, options such as re-biopsy, transfer without testing, or continued storage may be considered.Is re-biopsy risk-free?Re-biopsy may require the embryo to be thawed again, have cells removed, and be refrozen. The potential effects of these additional procedures on the embryo and the expected benefit should be evaluated with the embryology team.
Embryo Transfer After PGT
After the genetic test results are complete, an embryo found suitable for transfer can be used in a frozen embryo transfer cycle once the prospective mother’s uterus is prepared.
1
Result Evaluation
Genetic results, embryo developmental characteristics, and laboratory reports are reviewed together.2
Embryo Prioritization
If multiple embryos with suitable results are available, the transfer order is determined based on embryological characteristics and the treatment plan.3
Uterine Preparation
The endometrial lining is prepared either by tracking natural ovulation or using estrogen and progesterone medications.4
Embryo Thawing
The embryo selected for transfer is thawed using controlled laboratory procedures, and its viability is assessed.5
Embryo Transfer
The viable embryo is transferred into the prospective mother’s uterus using a thin catheter, guided by ultrasound.6
Pregnancy Test and Follow-up
A pregnancy test is performed on the specified date after the transfer. If positive, a pregnancy ultrasound and necessary prenatal follow-ups are scheduled.Does PGT Replace Genetic Testing During Pregnancy?
PGT is the examination of a limited cell sample taken from an embryo before pregnancy for specific genetic conditions. It does not replace all screening and diagnostic tests performed during pregnancy.
Pregnancies achieved through PGT require standard pregnancy monitoring, ultrasound evaluations, and prenatal screenings appropriate for the woman’s age and health history.Particularly after PGT-M and PGT-SR, prenatal diagnostic options such as chorionic villus sampling (CVS) or amniocentesis may be discussed with the genetic specialist to confirm results.The necessary tests are determined based on the investigated genetic disease, PGT result, the prospective mother’s age, and pregnancy findings.Is NIPT the same as amniocentesis?No. NIPT is a screening test performed on maternal blood. Amniocentesis and CVS are diagnostic procedures that analyze fetal or placental cells. The appropriate test should be determined by the obstetrician and genetic specialist.
Is Sex Selection Performed with PGT?
Information about sex chromosomes may technically emerge during PGT. However, selecting embryos based solely on personal sex preference should be evaluated within the scope of medical, ethical, and legal regulations.
If there is a family history of serious X-linked genetic diseases, such as hemophilia or Duchenne muscular dystrophy, the embryo’s sex chromosomes may be relevant for assessing disease transmission risk.In such cases, the goal is not merely to choose a female or male child but to reduce the risk of transmitting the known serious genetic disease in the family.Not a routine option for sex selectionThe evaluation of sex chromosomes should be handled based on medical necessity, specialist and doctor opinion, and current regulations. It is not a service routinely offered to every patient.
Risks and Limitations of PGT
PGT can provide important information; however, the test has biological, technical, and clinical limitations.
No embryos reaching biopsy
Not all collected eggs may fertilize, and not all resulting embryos may reach the blastocyst or biopsy stage.No transferable results
All tested embryos may show results that are not suitable for the investigated disease or chromosomal change.Inconclusive results
Interpretable results may not be obtained for some embryos due to DNA quantity, sample quality, or technical reasons.Mosaic results
Uncertainty may arise regarding whether the result represents the entire embryo when the biopsy sample contains different cell groups.Possibility of false or misclassification
No genetic test offers 100% accuracy. Sample quality, DNA amplification, and biological variations can affect results.Impact of embryo procedures
Even when performed by an experienced team, the potential for the embryo to be affected by biopsy, freezing, and thawing cannot be completely eliminated.Undetected conditions
PGT provides information only about the genetic conditions within the scope of the test and does not exclude all diseases.No guarantee of pregnancy
Transferring an embryo with a suitable result does not guarantee implantation, pregnancy, or live birth.Does PGT treat the embryo?No. PGT does not change or treat the genetic or chromosomal structure of the embryo. It aims to support transfer planning with the information obtained through testing.
Potential Advantages of PGT
The potential benefits of PGT may vary depending on the test type, the nature of the genetic risk, and the number of embryos available to the couple.
Reducing the risk of genetic disease transmission
PGT-M can help assess the risk of transmitting a known, serious single-gene disorder in the family to the embryo.Identifying unbalanced chromosomal structures
PGT-SR can help identify embryos compatible with unbalanced chromosome structures in carriers of translocations or inversions.Supporting embryo prioritization
PGT-A can help prioritize embryos for transfer in some patients with multiple blastocysts.Facilitating single embryo transfer planning
In suitable patients, evaluating genetic results alongside embryo development can support the decision for single embryo transfer.Managing recurrent genetic risk
For families who have had a previous pregnancy with a specific genetic condition, planning for a new pregnancy can be more detailed.Informed decision-making
Couples can make more informed decisions by receiving genetic counseling about embryo results and alternative options.PGT and Genetic Diagnosis Costs in Cyprus
PGT and genetic diagnosis costs in Cyprus may vary depending on the type of PGT applied, the number of embryos tested, personalized genetic preparation, and the scope of the IVF treatment.
PGT is not only a genetic laboratory test. The treatment may include various stages such as ovarian stimulation, egg retrieval, fertilization, embryo culture, embryo biopsy, vitrification, and frozen embryo transfer.Key factors that may affect the total cost include:- Application of PGT-A, PGT-M, or PGT-SR
- Genetic counseling and pre-assessment
- Custom PGT-M test development process
- Obtaining additional DNA samples from family members
- IVF treatment and medications used
- Egg retrieval procedure and anesthesia
- Microinjection (ICSI) procedure
- Blastocyst culture
- Embryo biopsy
- Number of embryos to be tested
- NGS or other genetic analysis methods used
- Vitrification and storage of embryos
- Need for re-biopsy of embryos with inconclusive results
- Frozen embryo transfer
- Uterine preparation and medications before transfer
When comparing prices, ask what is includedWhen comparing PGT costs, it should be checked whether IVF treatment, biopsy, genetic analysis, embryo freezing, storage, and frozen embryo transfer are included in the quoted price.
Current treatment scope and cost information will be shared by our patient coordinators after evaluating your genetic reports and previous IVF results.Why Vita Altera IVF Center?
At Vita Altera, genetic diagnosis is handled not merely as sending cells to a laboratory, but as a holistic process comprising genetic counseling, IVF treatment, embryo biopsy, safe storage, and personalized embryo transfer.
- Personalized PGT-A, PGT-M, and PGT-SR planning
- Detailed evaluation of genetic reports before treatment
- Genetic counseling and laboratory coordination
- Experienced obstetricians and gynecologists
- Experienced embryology and laboratory team
- Blastocyst culture and embryo biopsy
- Coordination with advanced genetic analysis laboratories
- EmbryoScope+ for embryo development monitoring
- Chip ID sample matching and security system
- Modern embryo vitrification applications
- Personalized frozen embryo transfer
- Counseling for mosaic and inconclusive results
- Personal patient coordinator support
- Multilingual patient counseling
- Online pre-consultation opportunity
- Regular follow-up before and after treatment
Genetic technology does not guarantee successPGT and advanced laboratory technologies can provide additional information about embryos to support the transfer plan. However, embryo formation, genetic results, implantation, pregnancy, and live birth depend on many biological and personal factors.
Frequently Asked Questions About Genetic Diagnosis and PGT
What is PGT?
PGT involves examining cell samples from embryos created through IVF for specific genetic or chromosomal conditions.
Are PGD and PGT the same?
PGD and PGS are older terms. In the current classification, the terms PGT-A, PGT-M, and PGT-SR are used under the umbrella of preimplantation genetic testing.
What does PGT-A show?
PGT-A aims to assess whether the chromosome number in embryos is normal, missing, or extra within the test’s scope. It does not detect all single-gene disorders.
What does PGT-M show?
PGT-M is applied to assess whether a specific single-gene disorder or genetic variant previously identified in the family has been transmitted to the embryo.
What does PGT-SR show?
PGT-SR aims to evaluate unbalanced chromosomal structures in embryos for couples carrying chromosomal structural rearrangements like translocations or inversions.
Is IVF absolutely necessary for PGT?
Yes. To genetically analyze embryos, eggs must be retrieved, fertilized in the laboratory, and embryos created.
Is PGT applied to every IVF patient?
No. The necessity of PGT is assessed individually based on age, genetic risk, embryo number, previous pregnancies, and treatment outcomes.
Should PGT-A be applied to everyone of advanced age?
Advanced age can be a factor in considering PGT-A; however, the decision is not based on age alone. Ovarian reserve, expected blastocyst count, and overall treatment potential are evaluated together.
Does PGT completely eliminate the risk of miscarriage?
No. It can help reduce some risks related to specific chromosomal or genetic causes; however, pregnancy loss can also have uterine, hormonal, immune, anatomical, and other biological causes.
On which day is embryo biopsy performed?
Biopsy is usually performed on the fifth, sixth, or, in suitable cases, seventh day when the embryo has reached the blastocyst stage.
Does embryo biopsy harm the embryo?
The procedure involves taking a limited number of cells from the embryo’s outer layer. The risk can be minimized by an experienced team and appropriate conditions; however, it cannot be said that biopsy carries no risk for the embryo.
Why is the embryo frozen after biopsy?
Because genetic laboratory analysis takes time, the embryo is stored via vitrification after biopsy and transferred in a subsequent cycle once suitable results are obtained.
How long does it take to get PGT results?
The turnaround time varies depending on the type of PGT, the number of embryos, the laboratory method, and whether prior patient-specific test preparation is required.
How long does PGT-M preparation take?
Depending on the type of known genetic variant and the availability of family samples, preparation can take a few weeks or, in some special cases, longer. It may be necessary not to start IVF treatment before preparation is complete.
Can it happen that no suitable embryos result from PGT?
Yes. All embryos may show results unsuitable for the investigated genetic disease or chromosomal change. Additionally, some embryos may not reach the biopsy stage.
Does a euploid embryo guarantee implantation?
No. A euploid result does not guarantee pregnancy. Other biological characteristics of the embryo, uterine structure, transfer technique, and the mother’s health status also influence the outcome.
What is a mosaic embryo?
A mosaic result suggests that signals from cells with different chromosomal structures are present together in the biopsy sample. Interpretation and possible transfer require specialized genetic counseling.
Can a mosaic embryo result in a healthy birth?
Some mosaic embryo transfers can result in healthy births; however, the chance of implantation may be lower, and the risk of pregnancy loss may be higher. The outcome depends on the specific chromosomal finding of the embryo.
Can an embryo with an inconclusive result be retested?
In some cases, thawing the embryo and performing a re-biopsy may be considered. The potential effects of additional procedures on the embryo and available alternatives should be discussed with the couple.
Does PGT detect all genetic diseases?
No. The test only evaluates the chromosomal or genetic conditions specified in the analysis plan. It does not exclude all genetic diseases and congenital anomalies.
Can PGT give incorrect results?
No genetic test offers 100% accuracy. Embryo mosaicism, limited cell samples, DNA amplification, and technical factors can cause the possibility of false or inconclusive results.
Is amniocentesis necessary after PGT?
Especially for pregnancies achieved with PGT-M or PGT-SR, prenatal diagnostic options to confirm the result should be discussed with the genetic specialist and obstetrician.
Can sex be learned through PGT?
Information about sex chromosomes may emerge during genetic analysis. The sharing or use of this information for embryo selection is evaluated within the context of medical necessity, ethical principles, and current regulations.
Can sex selection be done with PGT?
It should not be offered as a routine option for personal preference. In cases where there is a risk of a serious sex chromosome-linked disease, it can be considered within the scope of current regulations upon evaluation by the doctor and genetic specialist.
Does PGT cure the embryo?
No. PGT does not change or treat the genetic structure of the embryo. It provides specific genetic information about the embryo to assist with transfer planning.
Does PGT guarantee pregnancy?
No. Even if an embryo with a suitable result is transferred, implantation, clinical pregnancy, continuation of pregnancy, and live birth cannot be guaranteed.
Can the first consultation be done online?
Yes. Your genetic tests, karyotype results, previous pregnancy reports, IVF and embryology results can be shared beforehand.
Which documents should be sent before coming to Cyprus?
Sharing the prospective parents’ genetic reports, karyotype results, carrier screening tests, genetic results from previous pregnancies or children, AMH, semen analysis, and embryology reports facilitates the evaluation.
How can I learn about PGT costs in Cyprus?
The cost may vary depending on the type of PGT, number of embryos, personalized test preparation, biopsy, genetic analysis, and the scope of the IVF treatment. Personalized cost information is shared after reviewing the reports.
