If you are exploring IVF, you may hear your fertility specialist mention PGD screening and wonder if it is something you should consider. It can sound highly technical, but the idea is actually simple: PGD screening is a way to learn more about the genetic health of an embryo before it is transferred.
For some families, PGD screening is a life-changing step that reduces the risk of passing on a serious inherited condition. For others, it is an optional add-on that may help guide embryo selection and reduce the heartbreak of repeated miscarriage. Like most fertility decisions, the right choice depends on your medical history, your fertility journey, and what you are trying to achieve.
This guide explains what PGD screening is, why it is done, the benefits of PGD screening, and what the process typically looks like in an IVF cycle.
What is PGD screening?
PGD screening stands for Pre-implantation Genetic Diagnosis and refers to genetic testing performed on embryos created through IVF, before an embryo is transferred to the uterus.
In practical terms, it works like this:
- Eggs are collected and fertilised in the lab.
- Embryos develop for a few days under close monitoring.
- A small sample of cells is taken from an embryo (an embryo biopsy).
- The sample is tested in a genetics lab.
- Results help the fertility team decide which embryo to transfer, based on the type of PGD screening performed.
PGD screening is often used as an umbrella term in everyday conversation. In fertility medicine, genetic embryo testing is sometimes grouped under broader terms like “pre-implantation genetic testing”, with different categories depending on what is being tested. Your clinic will guide you on which type applies to your situation and what questions the testing can realistically answer.
The purpose of PGD screening
The main purpose of PGD screening is to reduce the risk of transferring an embryo with a significant genetic or chromosomal problem.
Depending on the reason you are doing it, PGD screening can be used to:
- Detect a specific inherited genetic condition that one or both genetic parents may carry.
- Identify embryos with certain chromosomal abnormalities that are more likely to lead to failed implantation, miscarriage, or specific genetic syndromes.
- Support embryo selection when there is a history of recurrent miscarriage or repeated unsuccessful IVF cycles.
- Provide reassurance for families with known genetic concerns.
It is important to understand that PGD screening is not designed to create “perfect” babies. It is a medical tool used to reduce specific risks and improve the chance of a healthy pregnancy in situations where genetics are a known concern.
Who might benefit from PGD screening?
PGD screening may be considered if you or your partner:
- Carry a known inherited genetic condition in the family.
- Have had a previous pregnancy affected by a genetic disorder.
- Have a history of recurrent miscarriage.
- Have experienced multiple unsuccessful IVF cycles.
- Have known chromosomal rearrangements (such as certain translocations) that can affect embryo development.
- Are using IVF with ICSI for male factor infertility and want additional insight into embryo genetics, depending on your clinical context.
- Are older and have concerns about age related chromosomal changes, and your fertility specialist believes testing could be helpful in your case.
Not everyone needs PGD screening, and it is not automatically recommended for every IVF patient. The decision usually comes down to risk factors, personal preferences, and whether the results would change your treatment plan in a meaningful way.
The benefits of PGD screening
1. Reduced risk of passing on a serious inherited condition
One of the biggest benefits of PGD screening is the opportunity to reduce the likelihood of passing on certain genetic diseases. For families with a known risk, this can provide enormous emotional relief and clarity.
2. Potentially lower risk of miscarriage
Many miscarriages happen because of chromosomal abnormalities that prevent normal embryo development. In selected cases, PGD screening may reduce the chance of transferring an embryo that is unlikely to result in a viable pregnancy.
3. Improved confidence in embryo selection
Even when embryos look healthy under a microscope, appearance alone cannot confirm genetic health. PGD screening adds another layer of information that can support decision making around which embryo to transfer first.
4. Potentially fewer embryo transfers over time
If PGD screening helps identify an embryo with a higher chance of leading to a healthy pregnancy, some patients may reach success in fewer transfer attempts. This can reduce emotional strain and, in some cases, reduce the overall treatment journey.
5. Clearer planning for future transfers
If multiple embryos are created and tested, results can help guide future transfers. This can support a more structured plan for building a family over time, especially if you hope to have more than one child.
How PGD screening fits into an IVF cycle
PGD screening is not a standalone procedure. It happens as part of IVF. Here is how the process typically unfolds.
Step 1: Fertility consultation and genetic planning
Before any treatment begins, you will meet with your fertility team. If PGD screening is being considered, you may also be referred for genetic counseling. This step helps confirm what should be tested, why, and what the limitations are.
If you are testing for a specific inherited condition, planning is especially important because the genetics lab may need time to prepare the correct testing approach.
Step 2: Ovarian stimulation and egg retrieval
The female partner (or egg donor) uses fertility medication to stimulate the ovaries to produce multiple mature eggs. Eggs are then collected during a short procedure under sedation.
Step 3: Fertilisation and embryo development
The eggs are fertilised in the laboratory using standard IVF or ICSI. Embryos are monitored as they develop over several days.
Step 4: Embryo biopsy
At the appropriate stage of development, a trained embryologist removes a small number of cells from the embryo. This step is delicate and highly specialised.
The embryo is typically preserved while results are pending. In many cases, this means embryos are frozen and transferred in a later cycle.
Step 5: Genetic testing and results
The biopsied cells are sent to a genetics laboratory. The lab analyses the sample based on the type of PGD screening being done.
Results may show:
- Embryos suitable for transfer based on the test criteria.
- Embryos that carry or are affected by a specific condition.
- Embryos with chromosomal patterns that may make implantation less likely or increase miscarriage risk.
- Occasionally, results that are inconclusive or require careful interpretation.
Step 6: Embryo transfer
Once a suitable embryo is identified, an embryo transfer is scheduled. Your fertility team will also focus on preparing the uterine lining and timing the transfer carefully.
Important limitations to understand
PGD screening can be incredibly helpful, but it is not a guarantee of pregnancy or a guarantee of a healthy baby.
A few realities to keep in mind:
- PGD screening tests only what it is designed to test. It cannot screen for every possible condition.
- Embryos can sometimes have mixed cell lines (often called mosaicism), which can make interpretation more complex.
- There is a chance that none of the embryos are suitable for transfer based on the test results, which can be emotionally difficult.
- PGD screening adds cost and time to the IVF process.
- While embryo biopsy is widely used and considered safe when performed by experienced labs, it is still an additional intervention in the embryo’s journey.
This is why the decision should be made with proper counseling and a clear understanding of what the information will and will not tell you.
PGD screening and gender selection
Many people ask about PGD screening and gender. Because genetic testing can identify sex chromosomes, it can often determine the embryo’s genetic sex.
However, PGD screening is primarily a medical tool. In many ethical frameworks, sex selection is generally discouraged unless it is linked to preventing a serious sex linked genetic condition. Your fertility team can explain what is appropriate in your circumstances and what local ethical and regulatory standards allow.
How Fertility Choice can support your PGD screening journey
PGD screening is a team effort that combines IVF expertise, embryology precision, and genetic laboratory analysis.
Fertility Choice can assist with:
- Fertility assessments and treatment planning.
- Ovarian stimulation, egg retrieval, and sperm preparation.
- IVF and ICSI fertilisation in a controlled laboratory setting.
- Embryo development monitoring and coordination of embryo biopsy.
- Cryopreservation and storage of embryos while results are processed.
- Planning and performing embryo transfer once a suitable embryo is selected.
- Ongoing support and guidance throughout the process.
If you are considering PGD screening, the best next step is a consultation where your medical history, family history, and fertility goals can be reviewed properly.
Conclusion
A PGD screening can be a valuable step for individuals and couples who want greater clarity and confidence during their IVF journey. By understanding the genetic health of embryos before transfer, you and your medical team can make more informed decisions, potentially reduce certain risks, and approach treatment with realistic expectations.
It is important to remember that PGD screening is not required for every fertility patient, and it does not replace personalised medical advice. The right choice depends on your medical history, family background, and fertility goals. Speaking with a qualified fertility specialist can help you weigh the benefits and limitations so that you choose a path that aligns with your needs.
If you are considering IVF or have concerns about inherited conditions, Fertility Choice is here to guide you through each step with professional care and compassionate support. Book a consultation with our team to learn whether PGD screening is appropriate for you and to take the next step toward building your family with confidence.
FAQs
What is PGD screening?
PGD screening is genetic testing performed on embryos created through IVF before an embryo is transferred. It is used to reduce the risk of passing on certain genetic conditions and, in some cases, to help identify embryos that are more likely to result in a healthy pregnancy.
Is PGD necessary for IVF?
No. PGD screening is not necessary for every IVF cycle. It is usually recommended when there is a known genetic risk, a history of recurrent miscarriage, repeated IVF failures, or specific medical factors where genetic information would help guide embryo selection.
What is a PGD test?
A PGD test is the genetic analysis performed on a small sample of cells taken from an embryo during IVF. The test looks for specific genetic mutations or chromosomal patterns depending on the reason for testing.
How accurate is PGD for gender?
PGD screening can usually identify sex chromosomes with a high level of accuracy because it analyses genetic material. However, PGD screening is primarily intended for medical purposes, and any decisions around sex selection should be discussed carefully with your fertility specialist in line with ethical and regulatory guidance.