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Understanding Preimplantation Genetic Testing

At Boston IVF, our work doesn’t end with a positive test. Many patients face miscarriage or chromosomal risks, which is why 50% opt for preimplantation genetic testing (PGT) prior to embryo freezing and transfer. As leaders in PGT, we offer advanced testing to identify genetic issues and help individuals achieve their family building goals.

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Preimplantation genetic testing (PGT) is one of the most important breakthroughs in the history of reproductive medicine, allowing our physicians and laboratory team to identify genetic or chromosomal defects in an embryo prior to being used in an IVF cycle. These genetic testing technologies have been shown to increase success rates, reduce miscarriage, prevent passing on inherited conditions, and reduce the total time it takes to achieve a live birth.

PGT can be performed on embryos to uncover abnormalities in chromosomal numbers (PGT-Aneuploidy) or to discover which embryos are affected or not affected by a gene mutation (PGT-M).

Which test is right for you?

PGT-A

PGT-M

If you are:

An IVF patient of over 35, whose increased age is a risk factor for chromosomal abnormalities

A carrier of or affected by a monogenic genetic disorder (e.g. cystic fibrosis)

And want to:

Increase your chance of a successful embryo transfer and/or decrease your risk of miscarriage or chromosomal disorder in your baby

Eliminate the chance of passing it on to your children

Looks for:

Abnormalities in the number of chromosomes

Mutations in a specific, single gene on a chromosome

Tells us:

Whether an embryo has the correct number of chromosomes or not and the sex of an embryo

Whether an embryo is affected by a certain genetic disorder

PGT-A: The Big Picture

Preimplantation genetic testing for aneuploidy (PGT-A) is a way of looking for major abnormalities in number across all 23 pairs of an embryo’s chromosomes. These kinds of major chromosomal abnormalities result in no pregnancy, miscarriage, birth defects, or cognitive impairment, so this test helps provide information about the overall quality of an embryo.

In IVF cycles without PGT-A, embryos are chosen for transfer based on the embryo’s visual quality, which cannot distinguish chromosomally normal embryos from abnormal ones. PGT-A provides an additional level of information to help select the very best embryo candidates for implantation.

Reasons to consider PGT-A

You're close to/over the age of 40

You've had multiple unsuccessful IVF cycles

You've experienced recurrent miscarriages

You wish to conceive more quickly

How is PGT-A performed?

PGT-A testing is performed on embryos created through an IVF cycle. After fertilization occurs and embryos have the chance to grow for several days to reach a stage of development called blastocysts, the lab obtains a small number of cells from a part of the blastocyst called the trophectoderm, which would eventually form the placenta. Our genetics lab partner then examines the number of each embryo’s chromosomes.

If you are interested in PGT-A, discuss it with your Financial Coordinator to understand whether you might incur additional out-of-pocket costs.

Considering in vitro fertilization with PGT-A?

We can help.

PGT-A has 98% accuracy in detecting major chromosome abnormalities

Approximately 50% of miscarriages occur due to chromosomal abnormalities

Male factor infertility (including abnormal quantity and quality of sperm) can increase the risk of chromosomal abnormalities in the embryo

PGT-A can identify embryos that have disorders relating to their number of chromosomes, which occur randomly and with greater frequency as we age

The advancement we're seeing with PGT-A testing is invaluable to patients. It has revolutionized the IVF world for older women and those who've experienced failed cycles.

Brent Barrett, PhD

Boston IVF Lab Director

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PGT-M:

Preimplantation genetic testing for monogenic defects (PGT-M) looks for a specific single gene mutation in embryos. While PGT-M is not necessary for all patients, it is an invaluable service for those who are carriers of a genetic disorder because it can ensure that the embryo selected for transfer will not be affected by that disorder.

✓ PGT-M has a 98% accuracy rate in detecting major chromosome abnormalities

✓ PGT-M can now be performed for most known single gene disorders.

✓ PGT-A is always performed in tandem with PGT-M, which provides prospective parents with even more information about the genetic makeup of their embryos

If PGT-M is important to you, discuss it with your Financial Coordinator as there may be additional out-of-pocket costs.

Reasons to choose PGT-M

✓ You or your partner have a family history of genetic disorders, including cystic fibrosis, fragile-X syndrome, spinal muscular atrophy, or more than 250 others

✓ You or your partner have an elevated risk of passing on a specific single gene disorder

How is PGT-M performed?

As with PGT-A testing, PGT-M testing is performed on embryos created through an IVF cycle. After fertilization occurs and embryos have the chance to grow for several days to a developmental stage called blastocysts, the lab obtains a small number of cells from a part of each blastocyst called the trophectoderm, which would eventually form the placenta. From these biopsies, Boston IVF’s collaborating genetic laboratories can test for more than 250 different single gene disorders.

Considering in vitro fertilization with PGT-M?

We can help.

PGT-M is an invaluable service for those who are carriers of a genetic disorder

PGT-M has a 98% accuracy rate in detecting major chromosome abnormalities

PGT-M can test for more than 250 different single gene disorders

PGT-A is always performed in tandem with PGT-M for enhanced genetic insights

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