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Planning for a family can take a physical, emotional, and psychological toll on prospective parents. Infertility can leave us feeling like many questions go unanswered. I know one of my main ones was, “Why is this so difficult for us and, seemingly, so easy for so many others?”
When I was going through infertility in the mid-2010s, I didn’t know. All I learned, in the end, was that my eggs were prematurely aged, and my embryos did not reach the blastocyst stage.
Only a few short years ago, there weren’t as many options as there are today, and that is an extreme positive about the reproductive science world: Things are evolving at an incredible speed. We’re learning more about reproduction and fertility every day.
The Evolving Science of Reproduction
One option that provides more insight into the many questions of infertility is preimplantation genetic testing. These tests can provide valuable information to help you make informed decisions about your reproductive options. Fertility specialists or genetic counselors can assist you in determining which tests are appropriate and how the results can guide treatment decisions. Better testing leads to better outcomes and improved embryo health, which results in higher pregnancy and birth rates.
After everything I’ve been through with infertility, I’ll take choice over chance any day.
Preimplantation Genetic Testing Options in a Nutshell
Each preimplantation genetic test has different benefits when it comes to advocating for your future family. Along with reducing the risk of miscarriage and genetic disease, preimplantation genetic testing increases the success of fertility treatments in general, including higher pregnancy rates per IVF cycle and more embryos available for transfer due to testing accuracy.
The Test: PGT-A
Preimplantation Genetic Testing for Aneuploidy, or PGT-A, is the genetic screening of an embryo during IVF to determine if it has the correct number of chromosomes, or is euploid. When an embryo is aneuploid, it does not have the appropriate amount of chromosomes. When an embryo has added or missing pieces of chromosomes, it can have issues like polyploidy and uniparental disomy. An incorrect number of chromosomes can lead to health problems, including intellectual disability and congenital disabilities if the embryo implants and pregnancy continues. Aneuploidy is also the cause of 60% of miscarriages and can prevent pregnancy altogether.
Who Might Benefit
All couples are at risk for aneuploidy. The risk increases with a woman’s age, and women over 35 are at a significantly higher risk.
How to Use This Test for Advocacy
PGT-A sends the cells from your embryo(s) to a lab to screen them for aneuploidy so that you and your care team can prioritize an embryo with the correct number of chromosomes for transfer, increasing your chances of a successful pregnancy and a healthy child.
The Test: PGT-A+
Newer to the IVF scene, PGT-A+ by LifeView takes PGT-A testing one step further and determines the origin of the chromosomal abnormality to help guide future treatment. This quality control ensures that the intended egg and sperm were used, providing peace of mind during your IVF cycle.
In addition to embryo sample(s), PGT-A+ requires saliva samples from the patient, partner, and/or gamete donor and has an accuracy rate of 98-99%. It can be implemented after any other LifeView PGT testing is performed without needing an additional embryo biopsy.
One of the many benefits of PGT-A+ is that it can help you better understand if you may want to seek donor egg or sperm as a next step.
The Test: PGT-M
Preimplantation Genetic Testing for Monogenic Disorders, or PGT-M, is designed for those with an increased risk of passing monogenic disorders to their children. Monogenic disorders are inherited conditions caused by genetic variants in a single gene. Common monogenic disorders include cystic fibrosis, Tay-Sachs disease, spinal muscular atrophy, sickle cell disease, BRCA1/2-related hereditary cancers, fragile X syndrome, and Huntington's disease. Embryos are produced through an IVF cycle, and then a small sample from each embryo is sent for analysis. Genetic counselors will always be available to discuss your report prior to and upon receiving your results.
Who Might Benefit
You may benefit from the PGT-M test if you or your partner or donor:
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Have a personal or family history of a monogenic disorder
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A monogenic disorder was diagnosed in one of your children or prior pregnancy
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You and your partner had a genetic carrier screening and were found to be carriers of the same genetic condition
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You are interested in HLA matching, in which people are matched for blood or bone marrow transplants.
How to Use This Test for Advocacy
You can work with your care providers to prioritize the healthiest embryos for transfer by identifying embryos that carry monogenic disorders, giving you more peace of mind when it comes to getting pregnant.
The Test: M2
With the M2 test from LifeView, biological parents are screened for a gene associated with increased miscarriage risk. Testing for the M2 haplotype is simple and only requires a saliva sample from the biological parents. Amazing, I know.
Who Might Benefit
Patients who have experienced a single pregnancy loss, multiple miscarriages, or other pregnancy complications may benefit from this test.
How to Use This Test for Advocacy
To increase the chance of a successful pregnancy, couples who carry the M2 Haplotype can elect for preimplantation genetic testing to screen their embryos for the genetic variant and prioritize a non-carrier embryo for transfer. If a biological parent is positive for the M2 haplotype, medical interventions are available to help mitigate complications.
The Test: PGT-SR
Pre-implantation Genetic Testing for Structural Rearrangements, or PGT-SR, screens embryos created during IVF for chromosomal abnormalities caused by known structural rearrangements in one or both parents. Chromosome rearrangements are identified through a test called a karyotype, which is often ordered to address a history of recurrent pregnancy loss or following a pregnancy with a chromosome problem. The different types of structural rearrangements can include:
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Reciprocal translocations: Chromosome material from two different chromosomes have swapped places
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Inversions: Chromosome material is “flipped over” within a chromosome
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Robertsonian translocations: Two different chromosomes are attached
Who Might Benefit
Individuals who carry a structural rearrangement have chromosomes arranged in a different order. Individuals who are carriers of balanced chromosome rearrangements have a higher chance of creating embryos with extra or missing genetic material. This can lead to fertility problems, pregnancy loss, and potential health problems in an ongoing pregnancy.
How to Use This Test for Advocacy
LifeView PGT-SR screens for chromosomal rearrangements by looking at the total amount of chromosome material in an embryo, called copy number analysis, and looking for patterns associated with genetic variation across the genome, called genotyping. These multiple analysis methods allow for the following:
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Distinguish between balanced and euploid embryos: This test identifies embryos with the appropriate number of chromosomes in the usual order versus embryos that inherited the balanced chromosome rearrangement.
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Increased accuracy: The test for chromosome problems associated with parental rearrangement is more than 99% accurate.
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Identify uniparental disomy: Uniparental disomy means an embryo has two copies of chromosomal material from one parent instead of both egg and sperm. The chance of uniparental disomy is higher in individuals with a balanced chromosome rearrangement and can result in health problems in an ongoing pregnancy.
By identifying embryos with chromosomal abnormalities, you can transfer the healthiest embryo(s) for transfer and increase the chances of a successful pregnancy and birth.
The Test: Embryo Health Score
Another new IVF preimplantation genetic testing option, the Embryo Health Score by LifeView, uses a combination of genetic variants to calculate the chances of polygenic conditions such as diabetes, cancers, schizophrenia, or heart disease in your future child.
Who Might Benefit
If you are concerned about certain risks for polygenic conditions based on your personal or family history, Embryo Health Score testing may be a good option to consider.
How to Use This Test for Advocacy
Embryo Health Score reduces disease risk for your future child. Utilizing the Embryo Health Score allows you and your care team to compare overall disease risks among embryos and decide which embryo(s) to prioritize for transfer.
PGT Testing: Advocating For Your Future Child, Today
Opting for preimplantation genetic testing during IVF can not only give you back your sense of control while navigating infertility, but it can also help ensure that preventable complications are avoided. It can answer questions about what is causing current fertility issues and recurrent miscarriages, as well as address future problems, like if an embryo could be at risk for specific conditions or a carrier for others.
This knowledge means you can advocate for yourself and your future family by making more informed decisions about your and your family’s health. As reproductive technology advances, it will continue to enable us to make educated decisions when choosing which embryo(s) to transfer for the most successful chance at pregnancy and birth. And who doesn’t want that?
Kristin Diversi is a writer and versatile creative. She is passionate about reproductive health and justice and lives in Longmont, Colorado, with her husband and their son.