In my practice, one of the most common questions before in vitro fertilization is whether IVF genetic counseling makes sense. The question is natural: when the emotional stakes are high, the need for clarity becomes a priority. Genetic counseling is not a “verdict” and it does not start from the idea that “there must surely be a problem,” but from the desire to make informed decisions, with rational steps that are proportional to the medical situation.
In the lines below, I explain what genetic counseling means in the IVF context, when I recommend it, how it unfolds, and how it relates to in vitro fertilization (IVF) and to aneuploidy screening (PGT-A).
What genetic counseling is in IVF (and what it is not)
Genetic counseling is a consultation in which I analyze the medical and reproductive history, family history, and existing results, in order to determine whether there is a relevant genetic question and what investigation could answer that question. In the IVF context, its value is that it brings order to information and reduces the “noise” of decisions made out of anxiety.
It is important to differentiate two things that are often confused:
- Genetic counseling = the medical discussion in which risks are estimated, options are explained, and what makes sense in your case is decided.
- Genetic testing = the actual analysis (a test) that answers a clearly formulated question.
Genetic counseling does not promise absolute certainty. A result “within normal limits” cannot guarantee a perfect outcome, and an “unfavorable” result does not automatically mean there are no solutions. My role is to translate these results into practical decisions, without rushed conclusions.
Why genetics comes up in the discussion before IVF
In reality, genetics comes up in the discussion in two main situations.
First: when the goal is a treatment strategy that is as efficient as possible, with well-chosen steps, without investigations that change nothing in the plan. Second: when there is a history that raises question marks—for example recurrent pregnancy losses, repeated implantation failures, suggestive family history, or previous results that do not fit into a coherent explanation.
In such contexts, genetic counseling becomes a clarification tool before steps such as PGT (genetic testing of embryos) or before repeating IVF cycles without an updated strategy.
When I recommend IVF genetic counseling
Recurrent pregnancy loss or pregnancies that stop developing
When recurrent losses occur, one possible explanation (not the only one) may be related to chromosomal abnormalities at the level of the embryo. Sometimes, more rarely, there may be a chromosomal rearrangement in one of the partners (for example balanced translocations) that increases the risk of pregnancy loss. In counseling, the objective is to determine what is likely, what is less likely, and which test could truly answer your question.
Repeated implantation failures
An implantation failure does not automatically mean a genetic cause. However, when there is a repetitive pattern and common causes have been excluded, genetic counseling helps us evaluate whether it makes sense to discuss additional genetic investigations or a strategy that includes PGT-A, depending on the clinical profile.
Suggestive family history
If there are known genetic diseases in the family, children with genetic conditions, multiple malformations, or events that repeat in close relatives, genetic counseling becomes essential. In these cases, the discussion is not about “looking for problems,” but about understanding risk and options, including before conception or before IVF.
A context that increases the likelihood of aneuploidies
In certain situations, the likelihood of aneuploidies (changes in the number of chromosomes) is higher. It is important that this discussion is carried out without alarmism: the right question is not only “is there risk?”, but “what impact does the risk have in your case and what measure is reasonable?”.
How genetic counseling works, concretely
Useful genetic counseling is structured and decision-oriented.
I begin by clarifying the objective: what we are trying to clarify and what decision could be influenced by the answer. Then, I discuss the medical and reproductive history: duration of infertility, diagnoses, investigations performed, treatments followed, the course of pregnancies (if there have been any). If there has been prior IVF, I also analyze relevant laboratory and embryology data.
In parallel, I discuss family history and build a coherent picture of possible risks. What matters is not only “whether there is something in the family,” but the pattern: which relatives are affected, at what age, whether there is repetition, and whether it fits a genetic model.
Only after this stage do I decide whether testing is justified and which test makes sense. The principle is simple: the right test for the right question, not “as many tests as possible.”
Genetic counseling and PGT-A: where they meet
In many discussions about IVF genetic counseling, the question about PGT-A naturally arises. In short, PGT-A means screening for aneuploidies, meaning a genetic evaluation of embryos to identify abnormalities related to the number of chromosomes.
This is where counseling comes in: I clarify whether PGT-A is appropriate in your case and what it can (or cannot) offer. In practice, I focus on three things:
- what problem we are trying to reduce, concretely;
- what the real probability is in the clinical context;
- what benefits are obtained relative to limitations, costs, and emotional burden.
For the medical context of the IVF procedure and PGT-A, the information is detailed in the treatment pages: in vitro fertilization (IVF) and screening for aneuploidies (PGT-A).
What investigations can be considered (depending on the situation)
There is no “standard package” that applies to everyone. That is why recommendations are made based on context and the clinical question.
In some cases, it makes sense to discuss chromosomal tests (for example karyotype), especially when there are recurrent losses or specific suspicions. In other situations, carrier screening (carrier testing) before pregnancy may be relevant. And in the IVF context, there may be indications for PGT (including PGT-A), when this step changes the treatment strategy and has solid medical justification.
In addition, there are resources that describe the role of genetic counseling before IVF and the procedural framework: the role of genetic counseling before IVF and complete IVF guide.
When I do not recommend genetic counseling (and why it matters)
There are situations in which genetic counseling does not add immediate value: when there is no suggestive history, when it is the first IVF cycle and no clinical signs have appeared that raise suspicion, or when the pressure comes exclusively from the desire for “total safety.” In such cases, I consider it healthier to keep the strategy simple, efficient, and stepwise.
In fertility, a good plan does not mean “more,” but more appropriate: the right investigations, in the right order, with clear objectives.
How to prepare for IVF genetic counseling
For the discussion to be truly useful, it helps to have quick access to the relevant information. I recommend preparing: recent tests, ultrasound reports, medical letters, and if there has been prior IVF, laboratory/embryology reports (number of oocytes, fertilization, embryo development, transfers).
It is very useful to come with 3–5 written questions: what exactly you want to clarify, what decision is next, and what worries you most. For a realistic perspective on the journey, including emotionally, there is also the page in vitro fertilization: the patient’s experience.
“You deserve to be heard, seen, treated with respect, and supported throughout your life.”
Frequently Asked Questions
Is IVF genetic counseling mandatory?
It is not mandatory for all patients. I recommend it when there is a clear clinical reason and when the discussion can concretely influence the treatment strategy (for example, choosing a type of test or including/avoiding additional steps).
If there are no genetic diseases in the family, does counseling still make sense?
Sometimes yes, but not automatically. In the absence of a suggestive family history, counseling becomes relevant mainly if there are recurrent pregnancy losses, repeated implantation failures, or results that raise specific questions.
Is PGT-A recommended for everyone in IVF?
No. PGT-A can be useful in certain situations, but it is not a universal solution. In genetic counseling, I discuss what PGT-A could bring in your case, what the limitations are, and whether the estimated benefit justifies the step.
Does PGT-A guarantee achieving a pregnancy?
There are no guarantees. PGT-A can reduce certain risks, but it does not control all factors that influence implantation and the course of pregnancy. That is why the discussion is always framed in terms of probable benefits and limitations.
After how many pregnancy losses should genetic evaluation be considered?
In practice, I am more interested in the pattern and context than a fixed number. If there is recurrence, a suggestive history, or other associated clinical elements, genetic evaluation may be justified and is worth discussing.
What does an “uncertain” result on a genetic test mean?
Some results are classified as a “variant of uncertain significance,” meaning they cannot be interpreted simply as good/bad. In such situations, counseling is essential to explain what it means in practice, whether monitoring or additional testing is recommended, and what real impact it has on the plan.
Does genetic counseling mean there is a serious problem?
No. Many times, counseling’s role is to confirm that the risk is low and that additional steps are not needed. It is a step that brings clarity and, for many patients, reduces anxiety.
How does genetic counseling connect to the complete IVF plan?
Genetic counseling is one part of a broader plan. It can adjust the strategy (for example, if PGT-A is discussed), but it does not replace it. For procedural context, it can be correlated with the pages in vitro fertilization (IVF) and screening for aneuploidies (PGT-A), as well as with the treatment resources on the site: IVF and PGT-A.
The Role of Dr. Andreas Vythoulkas in IVF in Genetic Counseling
In the context of IVF genetic counseling, my role is not to recommend investigations “from a template,” but to correctly clarify the indication and to build, together with you, a realistic strategy, based on data. We discuss precisely what we are trying to clarify, what the relevant risk is, and, most importantly, what decision can change in the treatment plan.
Along the way, I explain the difference between genetic counseling and genetic testing, as well as when it makes sense to discuss PGT-A. The basic treatment information is in in vitro fertilization (IVF), and the aneuploidy and PGT-A part in screening for aneuploidies (PGT-A).
For me, it is essential that you understand why I recommend (or do not recommend) a certain step, what limitations the results have, and how we interpret “unclear” situations. The objective is a coherent and predictable plan, not an improvised one, and for realistic expectations about the journey, the page in vitro fertilization: the patient’s experience is also useful.
At the same time, I aim for the discussion to be as practical and easy to follow as possible: to leave the consultation with a clear picture of the next steps, not only with medical terms. If an investigation is indicated, I explain what question it answers, what a “good” or “unclear” result means, and how that translates into decisions within IVF. And if it is not indicated, I tell you just as directly why it does not add value in your case and what is worth prioritizing instead, so that the plan remains efficient and balanced.
Talk to me about
IVF Genetic Counseling
Sources
- ACOG (American College of Obstetricians and Gynecologists) – Ethical Considerations for Genetic Testing and Counseling in Obstetrics and Gynecology
- ACOG – Genetic Screening and Testing (hub oficial de resurse)
- ASRM (American Society for Reproductive Medicine) – Indications and management of preimplantation genetic testing for monogenic conditions (Committee Opinion, 2023)
- NHS (National Health Service, UK) – Genetic and genomic testing (inclusiv rolul consilierii genetice)
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