Infertility of unknown cause, recurrent miscarriages (more than two miscarriages), or intrauterine fetal death – all these situations require genetic counseling.

Genetic counseling helps identify potential causes of infertility.

During counseling, the geneticist will recommend genetic tests tailored to your particular situation. Afterwards, the fertility specialist will adapt your infertility treatment accordingly.

Genetic counseling is recommended before in vitro fertilization (IVF).

It helps couples understand genetic risks, family genetic inheritance, and the possible risks of embryonic abnormalities.

At Genesis Athens, genetic counseling is part of the standard protocol for personalized IVF.

What Is Genetic Counseling

Genetic counseling is a specialized consultation offered by a geneticist. It is essentially a process of evaluating personal or inherited genetic risks. The geneticist explains which genetic conditions might be passed on to your future child.

Genetic counseling is recommended before pregnancy.

Genetic counseling is carried out before the assisted reproduction procedure (IVF).

Genetic Counseling Before IVF

For patients dealing with infertility, genetic tests fall into two main categories:

• Preconception genetic testing (testing partners who intend to conceive)
• Preimplantation genetic testing (testing embryos created through IVF).

Why It Is Important Before IVF

Genetic evaluation:

• Guides decision-making for couples of advanced reproductive age or with a relevant genetic history.
• Increases the chances of implantation and reduces the rate of embryonic loss
• Identifies chromosomal abnormalities before embryo transfer
• Helps prevent the transmission of hereditary diseases

Who Should Have Genetic Counseling Before IVF

Genetic counseling and genetic testing are essential in the following situations:

• Couples with a history of hereditary diseases or chromosomal abnormalities. Genetic counseling informs you about the risk of passing genetic diseases to your child.
• Couples who are carriers of genetic conditions. If both partners are carriers of the same genetic condition, a genetic consultation is mandatory.
• Recurrent miscarriages. After two or more miscarriages, genetic counseling is recommended. Most likely, the cause of these miscarriages is genetic and not related to structural abnormalities of the female reproductive system.
• Women over 35 years of age. Maternal age above 35 is associated with a higher risk of chromosomal abnormalities.
• Abnormal results on embryo screening.

Genesis Athens Clinic offers genetic counseling in collaboration with EU-accredited laboratories.

Stages of Genetic Counseling

Collecting Family and Medical History

The geneticist will ask you about your personal medical history. Ideally, this consultation should include both partners.

The geneticist is also interested in the medical history of your close and extended family. You will be asked about any illnesses affecting your parents, grandparents, siblings, or children.

Evaluating Individual Genetic Risk

Assessment of your individual genetic risk is done through tailored tests. These tests are performed on blood or saliva samples.

Recommending Specific Genetic Tests

Preconception genetic testing (before pregnancy)

Preconception genetic screening identifies increased risks of genetic disorders related to age, family history, and congenital malformations. However, no single test can accurately predict the risk of all possible defects in a child. Congenital malformations linked to environmental or toxic exposures, as well as random malformations, do not have a genetic basis.

The two main types of preconception genetic testing are:

1. Chromosomal karyotype: A karyotype is a diagnostic blood test that examines the size, shape, and number of a person’s chromosomes. Chromosomes contain genes. Genes are parts of DNA passed on to children from two sources: egg and sperm. They contain information that determines a person’s unique traits – height, eye color, and the risk of genetic diseases. Humans have 46 chromosomes, grouped into 23 pairs. One chromosome in each pair comes from the egg, and the other from the sperm.
2. Carrier screening / extended carrier screening: Carrier screening is a genetic test performed on DNA extracted from a saliva or blood sample. Its purpose is to determine whether a person is a carrier of a genetic condition that could be passed on to their children.
   
   There are two main ways in which genetic diseases are inherited:
   • Autosomal recessive inheritance is a type of genetic disease that can appear in a child if both the sperm and the egg carry the same disease.
   
   Pre-conception screening for these diseases can reveal increased reproductive risks. We recommend carrier screening to all patients. These screening panels may include high-risk diseases such as:
   • Spinal muscular atrophy
   • Cystic fibrosis
   • Tay–Sachs disease
   • Fragile X syndrome
   • Hemoglobinopathies (a group of inherited blood disorders that affect the production or structure of hemoglobin, the protein in red blood cells that carries oxygen)

Interpreting the Results and Planning IVF

Once you receive your genetic test results, you will meet with the fertility specialist to adapt your IVF protocol and to decide which embryos will be selected for transfer.

“You deserve to be heard, seen, treated with respect, and supported throughout your life.”

Andreas Vythoulkas

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Genetic Testing After the IVF Procedure

Genetic testing after the IVF procedure refers to preimplantation genetic testing (PGT). PGT examines embryos obtained through in vitro fertilization before they are potentially transferred into the woman’s uterus.

Embryos are tested for genetic problems that may cause implantation failure, miscarriage, or congenital malformations in the resulting child. If defects are detected, these embryos are usually not recommended for transfer.

Such genetic defects include:

• A missing or extra chromosome in the embryo (for example, Down syndrome)
• Single-gene disorders (such as sickle cell disease)
• Gene rearrangements that can cause pregnancy loss and congenital malformations.

Preimplantation genetic testing includes three main types of tests that can be performed on embryos after IVF:

• Preimplantation genetic testing for an abnormal number of chromosomes (PGT-A)
• Preimplantation genetic testing for monogenic (single-gene) diseases (PGT-M)
• Preimplantation genetic testing for structural rearrangements (PGT-SR), where structural chromosomal rearrangements are already known.

Fertility specialists perform these tests for two important reasons:

• To determine whether embryos have genetic abnormalities that often cause failed implantation and miscarriage, leading to an unsuccessful IVF outcome
• To identify embryos with genetic defects that could result in a child with a genetic disorder that may cause death or hereditary diseases such as muscular dystrophy.

Preimplantation Genetic Testing for Aneuploidy (PGT-A)

PGT-A is an analysis of embryo cells to determine whether they contain the normal number of chromosomes. Unequal division of the egg or sperm can lead to an embryo with too few or too many chromosomes.

Most people have 46 chromosomes because they inherit 23 chromosomes from each parent. If an embryo or cell is missing a chromosome or has an extra one, this is called aneuploidy. Monosomy means that one chromosome is missing, and trisomy means that there is an extra chromosome.

A child can survive only one type of monosomy, Turner syndrome, which means the absence of one of the X chromosomes. Trisomy of certain chromosome pairs can sometimes lead to live births of children with Down syndrome, also called trisomy 21 (an extra chromosome in the normal pair number 21), Turner syndrome (trisomy 18), and Patau syndrome (trisomy 13).

Aneuploidy is one of the main causes of implantation failure, miscarriage, and a major cause of congenital malformations in children.

Preimplantation Genetic Testing for a Monogenic Disease (PGT-M)

PGT-M analyzes specific genetic mutations known to be carried by one or both parents. A family history of genetic disorders in one or both parents can increase the likelihood of a child being born with a genetic mutation.

A disorder involving a single specific gene arises from a mutation in the DNA sequence:

• It can lead to diseases such as cystic fibrosis and sickle cell disease
• It may also cause inherited genetic mutations such as BRCA1 and BRCA2, which significantly increase a woman’s risk of breast and ovarian cancer.

During PGT-M, specialists test embryos for specific genetic disorders.

PGT-M commonly examines disorders such as:

• Huntington’s disease
• Sickle cell disease
• Muscular dystrophy
• Cystic fibrosis
• BRCA1 and BRCA2 mutations
• Fragile X syndrome
• Tay–Sachs disease

PGT for Structural Chromosomal Rearrangement (PGT-SR)

PGT-SR analyzes embryos from patients known to have a structural chromosomal rearrangement, such as an inversion or a translocation. Patients with a known structural rearrangement have a higher risk of producing embryos that do not have the correct amount of chromosomal material. These patients often experience repeated miscarriages.

PGT-SR looks for abnormalities such as:

• Robertsonian translocations
• Reciprocal translocations
• Non-reciprocal translocations

How Are PGT-A, PGT-SR, and PGT-M Performed on Embryos Obtained Through IVF?

The two main stages of all three types of PGT are the same.

1. Embryo biopsy
2. Laboratory analysis of the biopsy to perform genetic tests on the DNA.

In all forms of testing, the biopsy is performed at the blastocyst stage (day 5 or day 6 of embryo culture). The blastocyst consists of two types of cells: the trophectoderm (which will form the placenta) and the inner cell mass (which later develops into the embryo).

The biopsy removes 3–10 cells from the trophectoderm (pre-placental cells) for laboratory testing for genetic disorders.

Results are usually available within 7–10 days after the biopsy.

The blastocyst is frozen immediately after the biopsy to wait for the test results, then thawed and transferred to the woman in a subsequent cycle.

There are no documented risks for the health of children born after PGT testing. However, handling the embryo, performing the biopsy, freezing, and thawing carry a small risk of damage, which can result in an embryo that does not implant. Approximately 5% of embryos evaluated by PGT are lost due to such damage.

Benefits of Genetic Counseling Before IVF

• Increases IVF success rates by selecting healthy embryos
• Reduces the risk of hereditary diseases being passed on to the child
• Avoids the implantation of embryos with chromosomal abnormalities
• Allows parents to make informed decisions.

Schedule a genetic consultation at Genesis Athens for a personalized and safe IVF plan.

Frequently Asked Questions

What is genetic counseling before IVF?
Genetic counseling is a specialized consultation offered by a geneticist. The geneticist will explain which genetic conditions may be passed on to your future child. Genetic counseling is recommended before pregnancy and is carried out before the assisted reproduction procedure (IVF).

What genetic tests are recommended before treatment?
The two types of preconception genetic testing (before pregnancy) are chromosomal karyotyping and carrier genetic screening / extended carrier screening.

Is it mandatory for all couples?
It is recommended for couples with infertility of unknown cause, for those with genetic defects in the family, or for those undergoing IVF.

How long does the testing process take?
You will receive your results in approximately two weeks.

Can the results influence the IVF protocol?
Yes, the results will guide the fertility specialist in adapting your IVF treatment.

Can genetic counseling help prevent rare diseases?
Yes, this is one of the reasons why genetic counseling is performed.

Is it covered by the National IVF Programme 2025?
Genetic counseling is not reimbursed through the 2025 IVF programme.

Why Choose Genesis Athens for Genetic Counseling

• Genesis Athens collaborates with EU-accredited genetic laboratories
• We have an interdisciplinary team – fertility specialists and geneticists
• We integrate genetic testing directly into the IVF protocol
• We offer complementary emotional counseling to support informed decisions.

Sources:

The American College of OBGYN (ACOG)
American College of Medical Genetics (ACMG)
Human Fertilization & Embryology Authority UK

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