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Modeling Study Estimates Polygenic Embryo Screening Risk Reductions in IVF Patients and Egg DonorsNew IVF Screening Tool Shows Far Less Benefit Than Promised

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Key Takeaway
Consider simulation results showing modest relative risk reductions for polygenic embryo screening in infertility patients.

This research article describes a modeling study utilizing simulation based on IVF datasets. The setting involved simulation using IVF datasets. The scope encompasses 6944 ovarian stimulation cycles from 4452 Italian infertility patients and 2138 stimulation cycles of egg donors. The intervention involves the hypothetical application of polygenic embryo screening compared to embryos born without screening.

Primary outcomes focused on relative risk reduction for polygenic conditions. In infertility patients with all embryos transferred, risk reductions were approximately 1-3%. An intention-to-screen analysis of all completed cycles showed risk reductions under 0.5%. Including incomplete cycles yielded risk reductions of approximately 2-5%. Pooling all embryos from all cycles of the same patient resulted in risk reductions of approximately 5-10%.

For egg donor cycles, risk reductions were approximately 20%. However, authors note this is a modeling study based on simulation. It assumes randomly drawn polygenic risk scores and does not account for all real-world IVF factors. Risk reductions are substantially lower than prior estimates that did not account for realistic live birth rates. Safety data regarding adverse events were not reported in the simulation.

Practice relevance indicates typical infertility patients would benefit little from polygenic embryo screening. PES predicted to achieve greater relative risk reductions in fertile patients (egg donors). Results are from simulation modeling, not clinical trial data.

Imagine you are going through IVF. You have several embryos created, and a new test promises to pick the one with the lowest genetic risk for future health problems like heart disease or diabetes. It sounds like a way to give your child the best start in life. But a new study shows this promise may be much smaller than we thought.

This research looks at a tool called Polygenic Embryo Screening (PES). It checks an embryo’s DNA to estimate its risk for common diseases. The goal is to transfer the embryo with the lowest risk. But this study found that in real-world IVF, the benefits are often tiny.

IVF, or in-vitro fertilization, helps millions of couples have babies. It involves creating embryos in a lab and transferring them to the uterus. PES is a new add-on service. It claims to lower the chance your child will get heart disease, diabetes, or other conditions later in life.

This sounds great. But earlier models predicted huge benefits—up to a 50% lower risk. Those models assumed something that rarely happens in real life: that every embryo transfer leads to a live birth. In reality, IVF often requires multiple tries. Sometimes, it doesn’t work at all.

This study tested those predictions against real IVF data. It asks a simple question: Does this expensive screening actually help the average couple?

The Promise vs. The Reality

The old way of thinking was simple. If you have 10 embryos, you can pick the one with the best genetic score. That should cut disease rates in the next generation. But here’s the twist: IVF doesn’t work like that.

In real life, you might only have one or two embryos. Even with several, the first transfer might not stick. You might need to try again with another embryo. This reality changes everything.

The study found that for typical infertility patients, the benefit of PES is very small. We are talking about a risk reduction of just 1% to 3%. That is a far cry from the 50% once promised.

How It Works: A Simple Analogy

Think of PES like picking the best apple from a basket. Each apple has a hidden score for how long it will stay fresh. The old model assumed you could pick the top apple and it would last forever.

But IVF is more like a game of chance. You pick an apple, but it might not "grow" into a tree (a successful birth). If it doesn’t, you go back to the basket. The problem is, the basket might be small, and the apples might not be as good as you hoped.

This study shows that the "success rate" of each transfer is the key factor. If transfers often fail, the benefit of picking the "best" apple first is much lower.

Researchers used data from over 6,900 IVF cycles in Italy. They looked at real patients and egg donors. They simulated what would happen if they applied PES to these cycles. They tracked which embryos were transferred and which led to live births.

They compared the genetic risk of the baby born with PES to the risk of a baby born without it. This gave them a realistic estimate of the benefit.

The results were clear. For most infertility patients, the benefit is minimal. In cycles where all embryos were transferred and at least one child was born, the risk reduction was only about 1-3%. When looking at all completed cycles (even those with no birth), the benefit dropped below 0.5%.

The benefit increases with more embryos and younger maternal age. But for the average patient, these numbers are low.

Here’s where it gets interesting. The tool works much better for egg donors. Donors are young and healthy, and they often produce many embryos. In donor cycles, the risk reduction reached about 20% in a single cycle. This is still lower than the old 50% prediction, but it is much more significant.

But There’s a Catch

This doesn’t mean this screening is available or useful for everyone.

The study found that pooling all embryos from one patient across multiple cycles increased the benefit to 5-10%. But this requires having multiple IVF cycles, which is costly and emotionally draining. For a single cycle, the benefit for a typical patient is often too small to justify the cost and effort.

The researchers conclude that for most infertility patients, PES offers little practical benefit. The ethical and social issues of offering this test to the general population need more attention. The focus should be on who benefits most, like young egg donors, rather than marketing it to everyone.

If you are considering IVF and PES, be realistic. This test is not a magic bullet. For many couples, the chance of having a healthy baby is not significantly improved by this screening.

Talk to your doctor about your specific situation. If you are young and have many embryos, the benefit might be higher. But for most, the cost and emotional weight may not be worth the small gain.

This study used data from one country (Italy) and simulated risk scores. Real-world genetic risks and IVF success rates can vary. The study also focused on specific diseases like heart attack and diabetes. The benefits for other conditions might differ.

More research is needed to see how PES performs in other populations. Future studies should look at the long-term health of children born using this screening. Ethical questions about genetic selection also need more discussion. For now, the promise of PES is much smaller than initially thought, especially for the average IVF patient.

Study Details

EvidenceLevel 5
PublishedApr 2026
View Original Abstract ↓
Background: Polygenic embryo screening (PES) has recently become available to in-vitro fertilization (IVF) patients, allowing them to evaluate the genetic risk of each of their embryos for polygenic conditions such as heart attack or diabetes. Initial modeling predicted that transferring the embryo with the lowest genetic risk for one or more diseases would substantially reduce prevalence in the next generation, with relative risk reductions up to 50%. However, these models assumed the availability of a prespecified number of embryos and that the embryo with the most favorable polygenic risk is born once transferred to the uterus. In reality, a large percentage of embryo transfers do not lead to live births, and IVF frequently results in no or only a single live birth. Methods: To quantify the expected risk reduction in the context of IVF, we used two datasets: 6944 ovarian stimulation cycles from 4452 Italian infertility patients and 2138 stimulation cycles of egg donors. In both datasets, we simulated the hypothetical application of PES in these cycles by assigning patients and their embryos randomly drawn polygenic risk scores for a given disease, assuming that embryos have been transferred in increasing order of their risk, and tracing their birth outcomes. We then compared the risk of the embryo born after hypothetical PES to the risk of an embryo born without PES. We either considered only completed cycles or integrated over possible birth outcomes of non-transferred embryos in incomplete cycles. Results: In stimulation cycles in infertility patients in which all embryos have been transferred and at least one child was born, we estimate that PES will result in relative risk reductions of just {approx}1-3%. In an intention-to-screen analysis of all completed cycles (regardless of birth outcomes), relative risk reductions are under 0.5%. The risk reductions increase, as expected, with more euploid blastocysts and with younger maternal age. Including incomplete cycles (in which not all embryos have been transferred) increases risk reductions to {approx}2-5%, due to the availability of more euploid blastocysts and a higher live birth rate per transfer in these cycles. Pooling all embryos from all cycles of the same patient increases risk reductions to {approx}5-10%. Relative risk reductions in egg donor cycles reach {approx}20% even with a single stimulation cycle per donor. Conclusions: With the exception of particularly good-prognosis patients or cycles, typical infertility patients would benefit little from PES. In fertile patients, as represented by egg donors, PES is predicted to achieve greater relative risk reductions. However, even though these reductions are still substantially lower than prior estimates that did not account for realistic live birth rates. Ethical, social, and clinical issues associated with offering PES in the general population should be prioritized in future research.
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