What Is PGT-A? How Embryo Genetic Testing Works During IVF | MDC

What Is PGT-A? How Embryo Genetic Testing Works During IVF

DL
Dr Lauren (MBBS, PhD, CCT)
Senior Gynaecologist & Clinical Advisor

Your doctor has mentioned PGT-A. Or you've come across the term while researching IVF and want to understand what it actually involves before your next consultation. Either way, this guide explains exactly what PGT-A is, how the process works step by step, who it is most likely to benefit, and what the results mean for your treatment.

PGT-A does not replace the foundational fertility investigations that should come before any IVF cycle. But for the right patients, it is one of the most clinically significant advances in embryo selection available today.

What Is PGT-A?

PGT-A stands for Preimplantation Genetic Testing for Aneuploidy. It is a laboratory procedure performed on embryos created through IVF, before any embryo is transferred to the uterus. The purpose is to identify which embryos have the correct number of chromosomes — 46 in total, arranged in 23 pairs — and which carry chromosomal abnormalities (aneuploidy) that would prevent a successful pregnancy.

Aneuploidy is one of the leading causes of IVF failure, implantation failure, and early miscarriage. It becomes more common as women age — by their early 40s, the majority of a woman's eggs may carry chromosomal errors. PGT-A allows embryologists to identify chromosomally normal embryos before transfer, rather than discovering problems only after a failed cycle or pregnancy loss.

The test analyses all 24 chromosome types (22 autosomes plus the X and Y sex chromosomes) simultaneously, giving a complete picture of each embryo's chromosomal status.

PGT-A is not a diagnosis. It is a selection tool — it helps identify which embryos from a cohort are most likely to implant successfully. It does not improve the quality of eggs or sperm, which is why foundational fertility investigations remain essential before starting IVF. See our guide on what affects IVF success rates for the full picture.

How PGT-A Works — Step by Step

PGT-A is integrated into the standard IVF process. Here is what happens at each stage:

01
Ovarian stimulation and egg collection
The process begins like any IVF cycle — hormonal medication stimulates the ovaries to produce multiple eggs, which are then collected under light sedation.
02
Fertilisation
Collected eggs are fertilised in the laboratory, either through standard IVF (mixing eggs and sperm) or ICSI (injecting a single sperm directly into each egg). Most PGT-A cycles use ICSI to minimise the risk of extraneous sperm DNA affecting the biopsy result.
03
Embryo culture to blastocyst stage
Fertilised embryos are cultured in the laboratory for 5–6 days until they reach the blastocyst stage. Blastocyst-stage embryos are biopsied rather than earlier-stage embryos because they have more cells available and the biopsy has less impact on the embryo's developmental potential.
04
Trophectoderm biopsy
A small number of cells — typically 5 to 8 — are carefully removed from the outer layer of the blastocyst (the trophectoderm), which develops into the placenta rather than the baby itself. This minimises disruption to the inner cell mass, which becomes the embryo. The biopsy is performed using a fine laser and microsurgical tools.
05
Genetic analysis
The biopsied cells are sent to a specialist genetics laboratory. Advanced sequencing techniques — typically Next Generation Sequencing (NGS) — analyse the chromosomal content of the sample. Results typically take 14 to 19 days.
06
Embryo vitrification (freezing)
While awaiting results, all biopsied embryos are vitrified (rapidly frozen) and stored. Transfer cannot happen in the same cycle — all PGT-A cycles result in a frozen embryo transfer (FET) once results are available.
07
Results and transfer decision
Results classify each embryo as euploid (chromosomally normal), aneuploid (abnormal), or mosaic (mixed). Only euploid embryos are recommended for transfer. The decision on whether and when to transfer mosaic embryos is made in consultation with your clinical team.

PGT-A vs PGT-M vs PGT-SR — What's the Difference?

PGT-A is one of three types of preimplantation genetic testing. They are often confused but serve different purposes:

TestFull NameWhat It Screens ForWho It's For
PGT-APreimplantation Genetic Testing for AneuploidyChromosomal number abnormalities (too many or too few chromosomes)Most IVF patients, especially over 35 or with recurrent failure
PGT-MPreimplantation Genetic Testing for Monogenic DisordersSpecific single-gene conditions (e.g. cystic fibrosis, BRCA mutations, sickle cell)Couples who carry known inherited single-gene conditions
PGT-SRPreimplantation Genetic Testing for Structural RearrangementsChromosomal structural abnormalities (translocations, inversions)Patients with known chromosomal rearrangements identified through karyotyping

Most couples encounter PGT-A first because it screens for the most common cause of IVF failure — chromosomal number errors — without requiring prior knowledge of a specific genetic condition. PGT-M and PGT-SR are used when a known genetic issue has already been identified.

Who Benefits Most from PGT-A?

PGT-A is not recommended for every IVF patient. The clinical evidence is strongest for specific groups where the rate of chromosomal abnormality is high enough to make embryo selection meaningful.

Women over 35
The proportion of aneuploid embryos increases significantly with age. By 40, over half of embryos may be chromosomally abnormal. PGT-A helps identify the viable ones within a smaller cohort.
Recurrent implantation failure
Defined as three or more failed transfers with good-quality embryos. PGT-A can determine whether chromosomal abnormality is the underlying cause of repeated failure.
Recurrent miscarriage
Most early miscarriages are caused by chromosomal abnormalities in the embryo. PGT-A reduces the transfer of embryos likely to miscarry, lowering emotional and physical burden.
Previous aneuploid pregnancy
Couples who have had a pregnancy affected by chromosomal conditions such as Down syndrome, Edwards syndrome, or Patau syndrome.
Severe male factor infertility
Sperm from men with very low counts or poor morphology may carry higher rates of chromosomal errors, increasing the risk of aneuploid embryos.
Multiple failed IVF cycles
When cycles have failed despite apparently good-quality embryos, PGT-A can determine whether undetected chromosomal abnormality was a contributing factor.
PGT-A is generally not recommended for women under 35 with no history of failure or miscarriage, where the rate of chromosomal abnormality is lower and the risk of discarding viable embryos may outweigh the benefit. This is an active area of clinical debate — see the controversies section below.

Mosaic Embryos — What They Mean

PGT-A results classify embryos into three categories — and the third is the most complex:

  • Euploid — chromosomally normal. Recommended for transfer.
  • Aneuploid — chromosomally abnormal. Not recommended for transfer as they are unlikely to result in a viable pregnancy and carry a high miscarriage risk.
  • Mosaic — a mixture of normal and abnormal cells within the same embryo. This is where clinical decision-making becomes nuanced.

Mosaic embryos were not well understood in earlier generations of genetic testing. Improved sequencing technology now detects them more reliably — and the evidence suggests that some mosaic embryos can implant and result in healthy pregnancies, while others carry significant risk.

The degree of mosaicism matters. A low-level mosaic embryo (where the proportion of abnormal cells is small) may be considered for transfer when no euploid embryos are available, following detailed counselling. High-level mosaic embryos carry substantially higher miscarriage risk and are usually not transferred.

The decision to transfer a mosaic embryo is always made on a case-by-case basis with your clinical and genetics team — it is not a straightforward yes or no.

Risks and Limitations of PGT-A

PGT-A is a sophisticated procedure but it carries real limitations that every patient should understand before deciding whether to proceed.

Potential Benefits
What PGT-A can do
+ Identify chromosomally normal embryos before transfer
+ Reduce miscarriage risk from chromosomal causes
+ Reduce the number of failed transfers
+ Potentially shorten time to successful pregnancy
+ Provide information about embryo chromosomal status
Risks & Limitations
What PGT-A cannot do
Small biopsy risk — embryo damage occurs in approximately 1–2% of cases
Cannot detect all genetic conditions — only chromosomal number errors
Mosaic results require complex interpretation
May result in no transferable embryos if all are aneuploid
Does not improve egg or sperm quality
Adds cost and extends the treatment timeline

One limitation that patients are often surprised by: if all embryos in a cohort are aneuploid, PGT-A leaves no embryos available for transfer. This can be emotionally difficult — particularly for older patients who produced few eggs. Understanding this possibility before starting a PGT-A cycle is important for managing expectations.

Is PGT-A Right for Everyone? The Evidence Debate

PGT-A is not universally recommended, and there is genuine scientific debate about its benefit for certain patient groups. This is worth understanding before deciding.

Where the evidence is strong: For women over 35, those with recurrent implantation failure, and those with recurrent miscarriage, multiple randomised controlled trials show that PGT-A improves the live birth rate per transfer and reduces miscarriage rates. The benefit is clearest because these patients have the highest background rate of chromosomal abnormality.

Where the evidence is less clear: For women under 35 with no history of failure, the picture is more complicated. The baseline rate of aneuploidy is lower in this group, meaning PGT-A may identify fewer abnormal embryos while still carrying the risks of biopsy. Some studies suggest that in good-prognosis younger patients, PGT-A does not meaningfully improve cumulative live birth rates — and may even reduce them slightly, by discarding embryos that were classified as aneuploid but might have self-corrected.

The mosaic embryo question: As detection of mosaic embryos has improved, so has awareness that mosaic classification is not always definitive. The biopsy samples only a small number of cells from the trophectoderm — it may not fully represent the chromosomal composition of the entire embryo. This is known as sampling error, and it is an ongoing area of research.

The consensus position from the HFEA and most UK fertility specialists is that PGT-A is a beneficial add-on for specific patient groups — but should not be presented as a routine improvement for all IVF patients. Ask your clinical team which category you fall into.

What Happens After PGT-A Results Come Back?

Results are typically returned within 14 to 19 days of the biopsy. Your clinic will receive a report classifying each embryo as euploid, aneuploid, or mosaic. Here is what happens next depending on the outcome:

ResultWhat It MeansNext Step
One or more euploid embryosChromosomally normal — best candidates for transferProceed to frozen embryo transfer (FET)
Mosaic embryo(s) onlyMixed chromosomal content — complex clinical pictureDetailed counselling; transfer may be considered case by case
All embryos aneuploidNo transferable embryos from this cycleConsider repeat stimulation cycle; review underlying factors
No result / inconclusiveLab unable to produce a clear result from the biopsy sampleDiscuss with clinical team — re-biopsy or transfer without result may be options

For patients with euploid embryos, the frozen embryo transfer cycle typically begins in the following weeks. The endometrium is prepared with medication, and the embryo is transferred in a straightforward procedure similar to a standard FET.

Having a euploid embryo does not guarantee a successful pregnancy — other factors including uterine receptivity, endometrial thickness, and underlying health conditions also influence implantation. But it does significantly improve the probability per transfer compared to transferring an untested embryo.

Frequently Asked Questions

What does PGT-A stand for?
PGT-A stands for Preimplantation Genetic Testing for Aneuploidy. It screens IVF embryos for chromosomal number abnormalities before transfer to the uterus.
Does PGT-A guarantee a successful pregnancy?
No. PGT-A identifies chromosomally normal embryos, which significantly improves the chance of implantation and reduces miscarriage risk — but it does not guarantee a live birth. Uterine receptivity, embryo quality beyond chromosomal status, and other factors all play a role.
How long does PGT-A take?
The biopsy is performed on day 5 or 6 of embryo development. Results from the genetics laboratory typically take 14 to 19 days. All embryos are frozen during this period, so transfer happens in a subsequent cycle.
Can PGT-A damage the embryo?
There is a small risk — approximately 1 to 2% — of embryo damage during the biopsy procedure. Trophectoderm biopsy at the blastocyst stage is considered safer than earlier-stage biopsy, as cells are taken from the tissue that will form the placenta rather than the embryo itself.
What is a mosaic embryo?
A mosaic embryo contains a mixture of chromosomally normal and abnormal cells. Unlike aneuploid embryos, some mosaic embryos can implant and result in healthy pregnancies — but the outcome depends on the degree and type of mosaicism. Transfer of mosaic embryos requires careful counselling and is decided case by case.
Is PGT-A the same as PGT-M?
No. PGT-A screens for chromosomal number abnormalities (aneuploidy). PGT-M screens for specific single-gene inherited conditions such as cystic fibrosis or BRCA mutations. They can sometimes be performed together but serve different purposes.
Should I do PGT-A before IVF?
PGT-A cannot be done before IVF — it is part of the IVF process. Before starting IVF, the most important step is a thorough fertility assessment for both partners, to understand the underlying cause of infertility and ensure IVF is the right treatment. Read our guide on IVF success rates and pre-treatment testing.
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Considering PGT-A as part of your IVF journey?

Before moving forward with embryo genetic testing, a thorough fertility assessment ensures your treatment is based on accurate diagnosis. Our genetic testing services include PGT-A, carrier screening, and recurrent miscarriage investigations.