Embryo screening has been a major part of many families’ IVF journey. Earlier, the focus was primarily on identifying chromosomal issues or inherited single-gene disorders. Today, science allows us to look even deeper, letting us explore how genetics may shape a child's long-term health.
Polygenic embryo screening can help you gain more clarity during one of the most emotionally and medically complex decisions during IVF: choosing which embryo to transfer.
This article explains polygenic screening, how it compares to other types of preimplantation genetic testing, and why more families are turning to it to make more informed choices during IVF.
What is polygenic embryo screening?
Polygenic screening is an advanced form of genetic testing that provides insight into how likely an embryo is to develop complex health conditions later in life. It assesses many genes at once to estimate risk for conditions that are influenced by multiple genetic and environmental factors, such as:
Type 1 and type 2 diabetes
Coronary artery disease
Certain cancers
Mental health disorders like depression and schizophrenia
These conditions are among the most common health issues people face today, and many families undergoing IVF are already thinking about their child’s health and quality of life. Polygenic screening offers a way to include that long-term perspective in the embryo selection process, allowing you to take a more proactive and preventive approach to family planning.
This testing doesn’t provide guarantees about outcomes. Instead, it gives risk-based scores to guide decisions during embryo selection.
Source: MART production
How does polygenic screening of embryos work?
Polygenic embryo screening expands the existing process of preimplantation genetic testing in IVF. Here’s what the process looks like:
IVF and embryo creation: Eggs are retrieved and fertilized with the provided sperm sample in the lab to create embryos, which are then monitored as they develop over the first few days.
Embryo biopsy: Once embryos reach the blastocyst stage (usually on day 5 or 6), a small number of cells is taken from the outer layer (trophectoderm), which will become the placenta. The inner cell mass, which becomes the fetus, remains intact, so the biopsy is low risk and minimally invasive.
Embryo freezing: After biopsy, embryos are usually frozen while genetic material is analyzed.
DNA analysis and polygenic scoring: The sampled cells are sent to the lab, where hundreds of genetic variants in the embryo’s DNA will be examined. The lab will calculate a polygenic risk score for several conditions.
What is a polygenic risk score (PRS)?
Polygenic risk score estimates how likely a person, or in this case, an embryo, is to develop specific complex conditions later in life based on their DNA. These conditions are influenced by many different genetic variants, often hundreds or thousands. Each variant contributes a small amount to the overall risk.
Researchers identify these variants by comparing the genomes of people with and without a particular disease. They analyze patterns across massive datasets to see which combinations are more common in people with the condition. These patterns are then used in statistical models to calculate a PRS.
How does polygenic embryo testing compare to other PGT options?
Each preimplantation genetic test serves a different purpose, and in many cases, they are used together to give a complete picture of an embryo’s health potential. Here’s how they compare:
Test | What it screens for | Who it is for |
|---|---|---|
Chromosomal abnormalities (aneuploidy), such as missing or extra chromosomes, causing conditions like:
| Most IVF patients, especially those over 35 or those with a history of miscarriage | |
Monogenic (single-gene) disorders, such as:
| Families with known genetic conditions or carriers identified after preconception genetic testing | |
Structural rearrangements in chromosomes, such as:
| Parents known to carry chromosomal structural issues | |
Polygenic screening | Risk for complex multifactorial diseases based on many genes, such as:
| Families wanting deeper insights into the future health risks of their child |
Bonus read: Learn more about PGT in these guides:
Are polygenic screening and PGT-P the same?
Polygenic screening and PGT-P are closely related, but they are not exactly interchangeable terms because all PGT-P is polygenic screening, but not all polygenic screening is PGT-P.
Polygenic screening is a broader scientific approach that assesses an individual’s genetic predisposition to common, complex diseases influenced by many genes (also known as polygenic traits). This type of analysis is used in various contexts, including:
Adult health
Population studies
Reproductive genetics
Preimplantation genetic testing for polygenic risk (PGT-P) is a specific application of polygenic screening within the IVF timeline. It refers to the use of PRS to evaluate embryos before implantation.
What can polygenic screening tell you?
Polygenic risk scores assigned to embryos after polygenic screening place each embryo on a spectrum of genetic risk compared to the general population. For example, an embryo might have a lower-than-average genetic risk of developing coronary artery disease or a higher-than-average risk of depression.
A polygenic risk score shows relative risk, so it does not predict whether a condition will or will not happen, how severe it might be, or at what age it might develop. It only shows where an individual embryo falls on the bell curve of risk. Most embryos will land somewhere near the average risk, but some may fall on extreme ends of the spectrum.
Source: Aleksandr Balandin
Relative vs. absolute risk
Absolute risk refers to the actual chance that a person will develop a specific condition over a specific period. Relative risk compares one person’s risk to another group’s risk (like the general population).
Polygenic screening shows correlation, not causation, which is different from single-gene testing for conditions like BRCA1-linked breast cancer, where risk levels are measurable.
For example:
A woman with a BRCA1 mutation has an absolute lifetime risk of 60–80% for breast cancer.
An embryo with a high PRS for breast cancer has a higher-than-average risk compared to the population baseline.
How much does polygenic embryo screening cost?
Many reputable providers charge approximately $2,500 for polygenic embryo testing, but it’s important to consider this expense within the broader context of IVF.
IVF treatments typically range from $12,000 to $30,000 per cycle, depending on the clinic, location, and medications. Here’s a sample cost breakdown:
Treatment | Estimated cost |
|---|---|
Initial consultation (without testing) | $225–$500 |
Base fee (monitoring appointments, egg retrieval, embryo creation, and embryo transfer) | $9,000–$14,000 |
Medications and injections | $3,000–$7,000 |
Embryo freezing | $500–$2,000 |
Embryo storage | $350–$600 per year |
Intracytoplasmic sperm injection | $1,000–$2,000 |
Genetic testing | $1,800–$6,000 |
Mock embryo transfer | $240–$500 |
For many prospective parents, such as gay couples, lesbian couples, single parents, people without a uterus, or those with severe fertility issues, costs may also include:
Donor sperm, typically costing $300 to $1,600
Donor eggs, often costing from $20,000 to $60,000
Gestational surrogate, which may cost from $60,000 to $150,000
Still, many parents find the possibility of sparing their child an illness that can seriously impact their quality of life valuable.
Who is polygenic embryo screening for?
Polygenic embryo screening is an option for anyone undergoing IVF who wants to get more information about their embryos and take a proactive approach to their future child’s health. It’s especially beneficial for:
Parents with a strong family history of common conditions: Polygenic embryo screening shows whether those inherited risks are likely to appear in each of your embryos.
Parents interested in longevity, well-being, and quality of life: Some parents are thinking long-term about how to set their child up for the healthiest, longest life possible.
People doing other forms of genetic testing: If you’re already undergoing PGT-A or PGT-M, polygenic screening can be layered on without additional disruption of the IVF process.
Couples with multiple viable embryos: Polygenic embryo testing looks beyond chromosomal normalcy. When several normal embryos are identified by embryo grading or PGT-A, it can help you focus on the ones with the lowest risk of common diseases.
Source: RDNE stock project
What are the public views on polygenic screening of embryos?
A study conducted in 2023 surveyed 1,400 participants representing the general population in terms of age, gender, and race/ethnicity. Here is the summary of public views on polygenic screening of embryos that the study revealed:
General support is high: 72% of respondents approved of using polygenic screening in general, 17% were undecided, and only 11% disapproved.
Approval depends on the trait screened: 77% approved of using PGT-P to screen for physical health conditions, 72% supported screening for psychiatric conditions, 36% supported screening for behavioral traits, and 30% for physical traits like height.
Interest is higher among those already pursuing IVF: 82% said they would be at least slightly interested in polygenic screening if they were already undergoing IVF, but only 30% said they would consider starting IVF specifically to access polygenic screening.
How can embryo selection based on polygenic scores help you?
The biggest motive to screen embryos for polygenic risks is the fear of passing on a condition that can affect a child's quality of life. Whether it’s heart disease, metabolic issues, or a psychiatric disorder, families usually want to do whatever they can to spare their future child from suffering.
Polygenic embryo selection is a way to reduce that risk, but how much risk reduction is possible?
Several factors shape the benefit, including:
Your family’s baseline genetic risk
The specific condition in question
The number of embryos available to choose from
For instance, if a couple has a strong family history of heart disease, based on their combined genetics and modeling, choosing the lowest risk embryo out of five could reduce their child’s risk by 35% compared to the average risk from those parents. In practice, results vary: one family might see a 50% reduction while another might only get 20%.
Polygenic screening of embryos doesn’t eliminate risk, but helps you tilt the odds by choosing the embryo with the best genetic health status.
How can Nucleus IVF+ help you?
IVF comes with big decisions at every turn, from choosing the right clinic to selecting which embryo to transfer, so the entire process can often become overwhelming.
Nucleus IVF+ is the first IVF option built for genetic optimization with a human-centric approach, guiding you at every step so you can focus on becoming a parent, not decoding logistics and lab reports.
With Nucleus, you can:
Match with a pre-vetted clinic and donors that fit your needs
Get a complete view of your own health and genetic risks through carrier screening
Access advanced embryo insights that go beyond viability to show each embryo’s long-term health potential and well-being markers
Rely on expert support 24/7, so you always know what each choice means for your family’s future
Instead of numbers and scientific jargon during embryo selection, you’ll get intuitive summaries and side-by-side comparisons that highlight what matters most to you. That way, you can make deeply personal, informed choices with confidence.
How to get started with Nucleus IVF+
If you’re ready to begin your IVF journey, start with a consultation with the Nucleus team. We’ll connect you with one of our partner clinics and guide you throughout, from carrier screening to embryo selection.
With Nucleus IVF+, you’ll have access to:
Nucleus Family: Comprehensive carrier screening for over 2,000 inherited conditions
Nucleus Embryo: The first genetic optimization platform that helps you analyze, compare, and choose embryos based on health outlook, well-being indicators, and more
Book your onboarding appointment today so we can make your IVF and birth journey smooth and comfortable.
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Featured image source: Vika Glitter
