In vitro fertilization, or IVF for short, is an assisted reproductive technology that involves extracting eggs from the ovaries, fertilizing them with sperm in a laboratory, and implanting the resulting embryo into the uterus. Parents-to-be opt for IVF for both medical and personal reasons, including infertility, existing health conditions like endometriosis, age-related fertility decline, and family-building in same-sex relationships.
Today, a growing number of aspiring parents are also turning to IVF to prevent genetic diseases from being passed on to their child(ren). These are often individuals with known chromosomal abnormalities, genetic variations, or a family history of inherited genetic conditions.
This raises an essential question: Can IVF prevent genetic disorders? If yes, how effectively? Let’s find out.
How parents pass down genetic disorders and why it matters
When parents carry certain mutations in their DNA, they can pass on genetic disorders to their children, allowing these conditions to persist through generations. How the inheritance works can vary, depending on the specific type of gene variants and inheritance pattern — say, whether it’s dominant, recessive, or X-linked.
Understanding these patterns helps prospective parents assess the risk of passing on certain genetic conditions, identify which ones to test for, and make more informed choices that can ultimately shape their IVF journey. The idea is for parents to tailor their genetic testing strategy, increasing the chances of a successful IVF process and a healthy baby.
Source: cottonbro studio
Types of genetic disorders and inheritance patterns
Most genetic disorders fall into three broad categories:
Monogenic disorders
Chromosomal disorders
Multifactorial disorders
Monogenic disorders are caused by mutations in a single gene. Their inheritance follows five key patterns, as broken down in the table below.
Inheritance pattern | Description | Inheritance | Example |
Autosomal dominant | One mutated gene copy causes the disorder | 50% chance if one parent carries the affected gene |
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Autosomal recessive | Both gene copies (one from each parent) must carry the gene variant for the disorder to develop | 25% risk if both parents are carriers |
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X-linked dominant | Variant on one X chromosome causes the disorder | Inherited from either parent (females); males from the mother |
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X-linked recessive | One X variant affects males more severely | Mothers pass variants to sons; daughters may be carriers |
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Mitochondrial | Variant in mitochondrial DNA | Passed only from mother to all children |
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Unfortunately, the other two types of genetic disorders — chromosomal and multifactorial disorders — don’t follow straightforward inheritance patterns. The former results from abnormalities in chromosome number or structure. For example, Down syndrome occurs due to an extra copy of chromosome 21.
As for multifactorial disorders, they arise from a combination of genetic changes and environmental factors, making their inheritance more complex. These include:
Certain types of cancer
Diabetes
Coronary artery disease
Arthritis
Late-onset Alzheimer’s disease
IVF and genetic disorders: Do they work together?
Genetic disorders can place a significant burden on individuals and families — physically, emotionally, and financially.
Take the monogenic disorder sickle cell disease as an example. Managing it requires regular blood transfusions, hospital visits, and pain management, all of which can lead to chronic fatigue and reduced quality of life. For families, the emotional toll of supporting a loved one through lifelong care can be overwhelming.
The financial impact is also substantial, as the lifetime management costs for individuals with sickle cell disease can exceed $1.7 million.
This is where reproductive technologies like IVF come in.
Source: RDNE Stock project
The idea behind using IVF for genetic reasons is to have more agency in your reproductive decisions before pregnancy begins.
By pairing IVF with genetic testing, prospective parents can identify embryos with a lower risk of inheriting conditions from either parent. Comparing embryos and selecting those with a higher likelihood of healthy development may help families avoid decades of medical costs and hardship.
How does IVF prevent genetic diseases?
IVF can help prevent certain genetic disorders by adding an important step to the process: preimplantation genetic testing, or PGT for short. IVF, combined with PGT, helps detect different genetic conditions, including monogenic and X-linked disorders, with greater certainty.
For couples who know they carry a detrimental genetic variant — such as those linked to cystic fibrosis or muscular dystrophy — PGT allows them to select embryos that don’t carry the specific disease-causing variant. There are several types of PGT designed to detect different conditions, offering a targeted and reliable way to reduce the risk of passing on many inherited disorders.
The resulting ability to make informed choices before pregnancy begins is especially meaningful for families with a history of debilitating or even fatal illnesses.
What does IVF with genetic screening look like?
A typical IVF cycle takes about four to six weeks, with each step of conception carefully managed in a clinical setting. The IVF timeline with genetic testing can take longer — from a few weeks to a few months — depending on the scope of screening and logistical setup.
We’ll walk you through the key phases of genetic screening to give you a better idea of how it fits into the overall IVF journey.
Step 0: Pre-IVF genetic counseling
There’s a lot of groundwork involved in IVF with genetic screening. At this stage, couples meet with a genetic counselor to review their personal and family history of genetic conditions. This information helps determine which genetic tests to run and guides the creation of a custom probe, a lab tool that detects the specific gene variant of concern.
Building this probe can take time, with some patients reporting waiting for as long as a few months.
Keep in mind that these probes can only detect known genetic variants. If a variant hasn’t been previously identified or falls outside the testing panel, it may go undetected.
The best solution today is to go for whole-genome DNA sequencing for both parents before undergoing IVF.
Whole-genome sequencing offers a more advanced form of carrier screening as it analyzes ~100% of your and your partner’s DNA, making it more likely to reveal new or rare genetic variants.
Nucleus is one of the most affordable whole-genome testing options that you can take from the comfort of your home. It helps identify a parent’s genetic risk across 2,000+ conditions, with support for the next steps and genetic counseling.
Get your Nucleus Family carrier screening kit to get started.
Bonus read: Learn about the benefits of carrier screening and how to talk to your partner about Nucleus.
Step 1: Stimulation
The first official step in the IVF process — with or without genetic screening — is ovarian stimulation. During this phase, hormonal medications encourage the ovaries to produce multiple eggs instead of the single egg that typically matures in a natural cycle. This step usually lasts eight to 14 days.
The ovarian stimulation process also includes:
Monitoring: Frequent ultrasounds and blood tests to track how the ovaries are responding to the medications.
Trigger shot: A shot typically administered 36 hours before egg retrieval to finalize their maturation.
Step 2: Egg retrieval
Egg retrieval is a minor surgical procedure performed under mild sedation to keep the patient comfortable. Using ultrasound guidance, the doctor inserts a thin needle through the vaginal wall and into the ovaries to collect mature eggs from each follicle. Then, they place the eggs in a special solution in an incubator to maintain optimal conditions.
This procedure usually takes about 20 minutes. While some women experience mild cramping and pressure afterward, it’s generally well-tolerated.
The goal is to collect as many mature eggs as possible, as not every egg will be genetically viable or successfully fertilized.
Step 3: Fertilization and development
After egg retrieval, embryologists fertilize the mature eggs with sperm in the laboratory. Typically, they use intracytoplasmatic sperm injection (ICSI), a technique where they inject a single sperm directly into each egg to maximize the chances of fertilization.
Source: DrKontogianniIVF
On average, about 70% of the mature eggs will fertilize successfully, starting to develop into embryos. Laboratory specialists carefully monitor embryo development — which usually lasts five to seven days. Around 50% of fertilized embryos will eventually reach the blastocyst stage — the point at which embryos are the most viable for either genetic testing, freezing, or transfer.
Step 4: Test the DNA of your embryos before you freeze them
This step marks the first major difference between traditional IVF and IVF with genetic screening. In a typical IVF cycle, doctors choose embryos based on their development and quality. But with IVF that includes genetic testing — which accounts for over half of IVF cycles in the U.S. — embryos are also tested before freezing to reduce the risk for inherited conditions.
Once embryos reach the blastocyst stage, a small sample of cells is removed for the PGT analysis. The embryos are then immediately frozen while awaiting results.
There are four main types of PGT, each tailored to detect specific types of genetic problems:
PGT type | Purpose | What it screens for | Pros | Cons |
Screens for monogenic disorders | Inherited conditions like cystic fibrosis, sickle cell disease, and Huntington's disease | Highly accurate (over 98%) for known conditions; helps prevent transmission | Only works for known variants | |
Screens for chromosomal abnormalities | Conditions involving missing or extra chromosomes, such as Down syndrome and Turner syndrome | Increases success rates and reduces miscarriage risk — especially for older patients | May not rank embryos clearly; “normal” embryos can still have subtle issues | |
Screens for structural chromosomal rearrangements | Large-scale issues like translocation, inversions, or deletions | Helps identify embryos that could lead to failed implantation or miscarriage | May miss small or subtle rearrangements | |
Screens for polygenic (multi-gene) risk across common complex and chronic diseases | Hard-to-predict and late-onset conditions like heart disease, diabetes, certain cancers, and autoimmune disorders | Helps identify embryos with the lowest inherited risk based on genetic markers | Does not diagnose disease; offers risk estimates, not guarantees |
Most laboratories report an average turnaround time of seven to 10 days from sample receipt to the final PGT-A report, while PGT-M and PGT-SR, and PGT-P results usually take two to three weeks to return. Working with a reliable genetic testing provider makes all the difference here by helping ensure timely results, accurate analysis, and fewer delays in your IVF timeline.
Bonus read: Learn how long PGT-A testing takes and what is its gender accuracy.
Step 5: Embryo selection
Source: DrKontogianniIVF
After genetic testing, it’s time to select embryos that show a lower risk of disease-causing variants and are chromosomally healthy. Chromosomally healthy embryos, or euploid embryos, have the correct number of chromosomes — 46 in total — and are more likely to develop into a healthy pregnancy. Any imbalance in this number can lead to serious issues like miscarriage, developmental delays, or conditions like Down syndrome.
It’s important to understand that not every IVF cycle will produce embryos that fit these criteria.
The attrition rate can be high during this process, so you should keep your expectations realistic.
Support tip: Understand that this is a common part of the IVF journey, and many patients need multiple cycles. If you feel overwhelmed or discouraged, consider reaching out to your clinic’s genetic counselor or seeking emotional support.
Step 6: Embryo transfer
After identifying a healthy embryo, doctors transfer it to the uterus with the goal of achieving pregnancy.
In IVF with genetic screening, frozen embryo transfer is the most common approach. This accommodates your wait time for genetic testing results.
The transfer procedure itself is usually quick and painless. Many describe it as feeling similar to a Pap smear, and it usually requires no recovery time.
Remember that even when doctors follow every step perfectly, the embryo may still fail to implant. Many people need more than one transfer to achieve pregnancy, so this phase calls for patience and resilience.
Can IVF remove genetic disorders altogether?
While IVF has become a vital tool for parents at risk of passing on genetic conditions, it’s important to understand that the process doesn’t guarantee a child without any genetic disorder. This is because:
PGT screens for specific genetic disorders, not every possible condition.
Certain genetic disorders depend on gene-environment interactions or have late-onset expression
New genetic variants can still plague the embryo — not inherited from either parent.
High-accuracy genetic testing typically requires whole-genome sequencing, which isn’t widely accessible in clinical settings.
So, IVF with genetic testing can only reduce the chances of passing on genetic disorders. This makes it a partial solution in the broader effort to reduce hereditary risk. If we look at common studies, estimated success rates of PGT methods are:
PGT-M: 50–60%
PGT-A: 60–70%
PGT-SR: 55–65%
As technology evolves, these rates will improve. In the meantime, working closely with a genetic counselor is essential to understand what PGT can and can’t do. For chronic and late-onset diseases that PGT-P screens for, more advanced screening technologies like Nucleus Embryo can offer deeper insight.
How Nucleus Embryo helps select the healthiest embryo
Even after standard genetic testing, many families find themselves facing tough decisions, especially when multiple embryos are considered equally healthy or display risks. That’s where genetic optimization software like Nucleus Embryo can help, a tool designed to provide more context to PGT data.
Nucleus Embryo offers an added layer of insight by helping you compare the genetic profile of each embryo. Here’s what the process looks like:
Ask your clinic for PGT-P testing with LifeView by Genomic Prediction
Sign up for Nucleus Embryo during or after you complete your IVF cycle
Request your embryos’ PGT-P DNA data from your clinic
Upload the data to Nucleus Embryo and analyze the embryo analysis report
The idea behind Nucleus Embryo is to empower families and give them more transparency as they make emotionally complex decisions. The tool leverages scientific achievements to help define potential decision-making data for each embryo, including:
Chronic and late-onset conditions, like heart disease, Alzheimer’s disease, and breast cancer
Physical traits
Well-being and personality markers like intelligence, mental health risks, and more
The following table outlines some of the key genetic conditions/traits you can uncover with Nucleus Embryo:
Appearance and traits | Eye color, height, hair color, male-pattern baldness, severe acne |
Body and physical health | BMI, chronic pain, left-handedness, osteoarthritis, rheumatoid arthritis |
Women’s health | Endometriosis, PCOS |
Nutrition and metabolic conditions | Alcohol dependence, celiac disease, type 2 diabetes |
Heart health | Coronary artery disease, hypertension |
Neurological and mental health | ADHD, Alzheimer’s, anxiety, bipolar disorder, depression, insomnia, migraine, multiple sclerosis, OCD, Parkinson’s disease, schizophrenia |
Rare hereditary disorders | Rare cancers, cystic fibrosis, hemochromatosis |
Other conditions | Asthma, macular degeneration, restless legs syndrome, seasonal allergies |
How to use Nucleus Embryo
Nucleus Embryo stands out from similar tools offered by clinics because it’s highly user-friendly. You don’t have to navigate stiff lab printouts or have long consultations with your doctor to figure out your results.
Your embryos’ data is available in one interactive platform that you can navigate at your own pace. The clean interface allows you to check and compare embryos and make the choice that aligns with your values.
Nucleus is HIPAA-compliant and follows industry-best privacy practices. The platform offers credible analyses, peer-reviewed and based on the latest genetic technology.
If you’ve already completed IVF and embryo screening, get started with Nucleus Embryo today and take the empowering step toward choosing what’s right for your family.
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Featured image source: Jonathan Borba
