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GENETIC TESTING

Preimplantation Genetic Testing for Aneuploidy (PGT-A)

PGT-A is an optional test that screens embryos created through IVF for extra or missing chromosomes. These chromosome differences can affect implantation, miscarriage risk, or a future child’s health.

Results provide additional information that may be considered alongside embryo development and grading when planning which embryo to transfer, although PGT-A is not beneficial for every IVF patient.

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At a glance

Quick Facts About PGT-A

Get a clear overview of what PGT-A examines and what its results can tell you.

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What It Evaluates

Screens embryo samples for extra or missing chromosomes, a finding known as aneuploidy.

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Optional Add-On

Can be performed on eligible embryos created through IVF prior to frozen embryo transfer, if desired.

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What to Expect

Embryos may be reported as euploid, aneuploid, mosaic, or inconclusive depending on test results.

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Limitations

PGT-A does not screen for specific single-gene conditions and cannot guarantee pregnancy or a healthy baby.

Disclaimer: This information is for educational purposes only and is not a substitute for personalized medical counseling.

overview

What is PGT-A?

Preimplantation genetic testing for aneuploidy, or PGT-A, screens embryos for extra or missing chromosomes. Chromosomes are packages of DNA that carry our genes. Most human cells have 46 chromosomes arranged in 23 pairs.

An embryo with the expected number of chromosomes is described as euploid. An embryo with an extra or missing chromosome is described as aneuploid. These differences can prevent implantation, result in miscarriage, or cause certain chromosome conditions.

PGT-A can only be performed on embryos created through in vitro fertilization. It does not change an embryo’s DNA.

Results provide additional information that may be considered alongside embryo development and embryo grading when deciding which embryo to transfer.

 

PGT-A
indications for testing

Who may consider PGT-A?

PGT-A is not necessary or beneficial for every IVF patient. Your doctor may discuss it with you based on factors such as:

  • Age at the time the eggs were retrieved
  • A previous pregnancy or embryo affected by aneuploidy
  • Recurrent pregnancy loss after appropriate evaluation
  • The number of blastocysts available for testing
  • Your treatment history, family-building goals and comfort with uncertainty

The chance of embryo aneuploidy generally increases as eggs age. However, age alone does not determine whether PGT-A will add value. Ovarian reserve, expected embryo number, treatment goals, cost and the possibility of uncertain results should also be considered.

The American Society for Reproductive Medicine states that the value of routinely using PGT-A for every IVF patient has not been demonstrated.

the process

How PGT-A Works

When PGT-A is included in an IVF cycle, embryos are biopsied at the blastocyst stage and remain frozen while a genetics laboratory analyzes the cell samples. Your Care Team will review the results with you and discuss transfer planning.

READING the REPORT

Understanding Your PGT-A Results

Exact terminology may vary by laboratory, but results generally fall into four categories.

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Euploid

The tested sample shows the expected number of chromosome copies (46 chromosomes arranged in 23 pairs).

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Aneuploid

The sample shows extra or missing chromosome material. The report identifies which chromosome difference was detected.

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Mosaic

The sample produces an intermediate result that may reflect more than one chromosome pattern. Mosaic results require individualized interpretation.

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Inconclusive

The lab couldn't produce a clear result, often because the sample contained too little usable DNA. Rebiopsy may be an option in some cases.

Important Note

Because PGT-A tests only a small sample from the embryo’s outer layer, the result may not represent every cell. If your report includes a mosaic or inconclusive result, Illume’s genetic counselors can explain how the laboratory classified it and what options may be considered.

what's possible

Benefits & Limitations of PGT-A

Learn what PGT-A may help clarify and what it cannot determine.

Chromosome Information

Identifies embryos whose tested cells have the expected number of chromosomes.

Transfer Decisions

Provides valuable genetic information that can help patients prioritize which embryo to transfer first.

Implantation Rates

May improve the chance of successful embryo implantation per transfer for some patients.

Miscarriage Risk

May lower the risk of chromosome-related miscarriage for some patients.

Single Embryo Transfer

PGT-A may help prioritize embryos for single embryo transfer. Transferring one embryo reduces the risk of multiple pregnancy.

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Pregnancy Outcomes

A euploid result cannot guarantee implantation, pregnancy, or a healthy baby.

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Embryo Viability

It cannot determine whether an embryo will continue developing after transfer.

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Embryo Quality

Testing does not change or improve an embryo’s underlying genetic potential.

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Live Birth Potential

Cannot predict with certainty whether an individual embryo will result in a live birth.

WHAT THE EVIDENCE SHOWS

Does PGT-A actually improve IVF success rates?

PGT-A does not improve outcomes for every IVF patient. Research findings vary depending on the patients studied and whether success is measured per embryo transfer, per retrieval cycle, or across all embryos created.

Selecting a euploid embryo may improve the chance of implantation for that individual transfer. However, testing does not create more embryos or improve their underlying potential. PGT-A may also leave some patients with fewer embryos available for transfer.

Randomized trials found similar overall pregnancy outcomes between PGT-A and conventional IVF in several patient groups. The value of PGT-A for reducing miscarriage or shortening time to live birth depends on individual circumstances and remains an active area of research.

The most useful question is not simply whether PGT-A works, but whether the information it provides is likely to add value to your specific IVF plan.

Patients discussing embryo testing with a fertility doctor
important considerations

PGT-A Accuracy & Limitations

While PGT-A can reliably identify many chromosome differences, no embryo screening test is perfect. Here's why:

  • Only a small cell sample from the outer layer is analyzed
  • Classifications differ among genetics laboratories
  • False-positive and false-negative results are possible
  • PGT-A does not test every gene or health condition and cannot predict autism, ADHD, intelligence, or an embryo’s overall health
  • Even when transferring a euploid embryo, implantation, pregnancy, or live birth cannot be guaranteed
  • Testing may reduce the number of embryos considered for future transfer
  • Embryo biopsy, freezing, thawing, and rebiopsy processes carry small procedural risks

Some embryos reported as mosaic have resulted in healthy births. The American Society for Reproductive Medicine (ASRM) recommends careful genetic counseling because the meaning and reproductive potential of these results can vary.

PGT-A cannot replace prenatal care. All patients who become pregnant via IVF should be offered prenatal screening and diagnostic testing regardless of whether PGT was performed.

Disclaimer: PGT-A provides information about the cells tested and cannot identify every genetic or health condition, guarantee pregnancy, or replace recommended prenatal testing. Your Care Team can explain how these limitations apply to you.

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common questions

FAQs About PGT-A

Learn more about PGT-A, from costs to ethical considerations and other factors.

How much does PGT-A cost?

Does PGT-A reduce miscarriage risk?

Can PGT-A detect Down syndrome?

Can PGT-A detect autism?

What are the ethical considerations of PGT-A?

Can PGT-A tell the gender of my embryos?

What is a mosaic embryo? Can it still be transferred?

your PERSONALIZED plan

Is PGT-A right for you?

At Illume, the guidance you receive is grounded in your circumstances, not a one-size-fits-all recommendation. Your reproductive endocrinologist considers your age, ovarian reserve, treatment history, and family-building goals before discussing whether testing like PGT-A may add value.

Our embryology team and in-house genetic counselors work alongside your physician to help you understand both the potential benefits and realistic limitations of testing.

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