Better selection for better outcomes.
Preimplantation genetic testing
During an in vitro fertilization (IVF) cycle, multiple embryos may develop, but not all embryos have the same potential. Some carry chromosomal abnormalities that may prevent implantation or lead to an early miscarriage. Others may carry an inherited genetic condition. Without preimplantation genetic testing, embryologists cannot determine whether embryos are genetically normal.
One of the most commonly used preimplantation genetic tests, PGT-A (Preimplantation Genetic Testing for Aneuploidy), analyzes embryos before transfer to identify those that are chromosomally normal.
At Miacleo, these tests are performed in collaboration with accredited partner laboratories. This includes PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) and PGT-M (Preimplantation Genetic Testing for Monogenic disorders), which are validated by CHU Sainte-Justine and covered by RAMQ when clinical criteria are met.
What preimplantation genetic testing changes in practical terms
Why test embryos?
Approximately 50 to 70% of early miscarriages are caused by chromosomal abnormalities in the embryo, a reality that is often misunderstood, yet central to understanding repeated implantation failures.
Preimplantation genetic testing allows us to intervene earlier in the process. Rather than waiting for pregnancy monitoring, these tests provide information about an embryo’s genetic status before transfer.
For couples who carry an inherited genetic condition, these tests offer an additional benefit: the possibility of reducing the risk of passing a genetic disorder on to their child, without having to wait for prenatal diagnosis during pregnancy.
It is important to continue pregnancy follow-up and follow your gynecologist’s recommendations, regardless of the results of preimplantation genetic testing.
Miacleo offers Optimise+, an integrated package combining Time-Lapse incubation technology with preimplantation genetic testing, either PGT-A or non-invasive PGT. This package was designed to make the most advanced technologies accessible to a greater number of patients.
The Time-Lapse incubator continuously photographs embryos while keeping them safely inside their incubator. This video sequence allows embryologists to monitor embryo development at any time. Combined with preimplantation genetic testing, it provides our embryology team with both chromosomal and morphokinetic information about each embryo, enabling more informed selection than ever before.
If you are already undergoing an IVF journey, ask your physician whether Optimise+ is appropriate for your situation.
Preimplantation genetic testing available at Miacleo
PGT-A: Preimplantation Genetic Testing for Aneuploidies
PGT-A (Preimplantation Genetic Testing for Aneuploidies) analyzes the number of chromosomes in each embryo. A healthy human embryo has 46 chromosomes, organized into 23 pairs. When a chromosome is missing or an extra chromosome is present, this is respectively called a monosomy or a trisomy. In both cases, the embryo is considered aneuploid. These chromosomal abnormalities are a leading cause of implantation failure and early miscarriage.
WHO IS IT FOR? PGT-A should be actively discussed with women aged 35 and older, as the proportion of aneuploid embryos naturally increases with age. It may also be considered for couples who have experienced recurrent miscarriages, individuals who have had multiple unsuccessful embryo transfers despite embryos appearing normal, and those who wish to maximize their chances of success from their first transfer. PGT-A can be selected as a standalone option or as part of the Optimise+ package.
WHAT DOES IT INVOLVE? PGT-A is integrated into an IVF cycle. A biopsy is performed on each embryo that reaches the blastocyst stage and meets quality criteria. A few cells are collected from the trophectoderm, the outer layer of the embryo, without affecting the inner cell mass that will develop into the future baby. Following the embryo biopsy, the embryos are vitrified. The biopsied cells are sent to an external laboratory for genetic analysis. Results are available approximately two weeks later. A follow-up appointment with your physician will be scheduled to review the results of your preimplantation genetic testing.
WHO IS IT FOR? PGT-A should be actively discussed with women aged 35 and older, as the proportion of aneuploid embryos naturally increases with age. It may also be considered for couples who have experienced recurrent miscarriages, individuals who have had multiple unsuccessful embryo transfers despite embryos appearing normal, and those who wish to maximize their chances of success from their first transfer. PGT-A can be selected as a standalone option or as part of the Optimise+ package.
WHAT DOES IT INVOLVE? PGT-A is integrated into an IVF cycle. A biopsy is performed on each embryo that reaches the blastocyst stage and meets quality criteria. A few cells are collected from the trophectoderm, the outer layer of the embryo, without affecting the inner cell mass that will develop into the future baby. Following the embryo biopsy, the embryos are vitrified. The biopsied cells are sent to an external laboratory for genetic analysis. Results are available approximately two weeks later. A follow-up appointment with your physician will be scheduled to review the results of your preimplantation genetic testing.
NiPGT-A: Non-invasive Preimplantation Genetic Testing for Aneuploidies
Non-invasive PGT (NiPGT-A) analyzes embryonic DNA that is naturally released into the culture medium during embryo development. Following the analysis, embryos are prioritized based on the likelihood that they are genetically normal. It is important to understand that the results and methodology differ from PGT-A, as the analysis does not examine embryonic cells directly. NiPGT-A is a prioritization tool and does not provide the same type of diagnostic information as PGT-A.
WHO IS IT FOR? NiPGT-A is intended for individuals who wish to prioritize embryos for transfer (without a diagnostic test), as well as patients aged 35 and under with a high ovarian reserve. NiPGT-A is available only as part of the Optimise+ package.
WHAT DOES IT INVOLVE? The culture medium from each good-quality embryo is collected at the time of vitrification. This medium is then sent to an external laboratory for analysis.
WHO IS IT FOR? NiPGT-A is intended for individuals who wish to prioritize embryos for transfer (without a diagnostic test), as well as patients aged 35 and under with a high ovarian reserve. NiPGT-A is available only as part of the Optimise+ package.
WHAT DOES IT INVOLVE? The culture medium from each good-quality embryo is collected at the time of vitrification. This medium is then sent to an external laboratory for analysis.
PGT-M: Preimplantation Genetic Testing for Monogenic Diseases
PGT-M (Preimplantation Genetic Testing for Monogenic Diseases) is a targeted test that identifies, in embryos, the presence of a specific genetic mutation responsible for a known inherited condition in one or both parents. By selecting embryos that do not carry the targeted mutation for transfer, PGT-M can help prevent the transmission of that condition within the family.
It is important to understand that PGT-M targets one specific mutation and does not screen for all genetic conditions an individual could potentially develop in the future. It does not replace PGT-A: an embryo that does not carry the targeted mutation may still have a chromosomal abnormality (aneuploidy). For this reason, both tests can be performed together when clinically indicated.
WHO IS IT FOR? PGT-M is intended for individuals or couples who carry an identified inherited genetic condition, such as cystic fibrosis, Huntington’s disease, spinal muscular atrophy, muscular dystrophy, fragile X syndrome, BRCA1/BRCA2 mutations, and many others. It may also be considered for couples whose genetic assessment reveals a high risk of transmitting a hereditary condition.
WHAT DOES IT INVOLVE? PGT-M requires an important preparation phase before starting an IVF cycle: the creation of a personalized genetic probe designed specifically for your family. This probe is developed using a blood sample from the parent(s) carrying the mutation and, in some cases, from another affected or carrier family member. Because each probe is unique to the family, its development can take several weeks. Your embryology team will plan your treatment timeline while taking this preparation period into account. PGT-M testing may be validated by CHU Sainte-Justine when eligibility criteria established by RAMQ are met. For cases not covered by RAMQ, Miacleo works with an external laboratory for preimplantation genetic testing.
WHO IS IT FOR? PGT-M is intended for individuals or couples who carry an identified inherited genetic condition, such as cystic fibrosis, Huntington’s disease, spinal muscular atrophy, muscular dystrophy, fragile X syndrome, BRCA1/BRCA2 mutations, and many others. It may also be considered for couples whose genetic assessment reveals a high risk of transmitting a hereditary condition.
WHAT DOES IT INVOLVE? PGT-M requires an important preparation phase before starting an IVF cycle: the creation of a personalized genetic probe designed specifically for your family. This probe is developed using a blood sample from the parent(s) carrying the mutation and, in some cases, from another affected or carrier family member. Because each probe is unique to the family, its development can take several weeks. Your embryology team will plan your treatment timeline while taking this preparation period into account. PGT-M testing may be validated by CHU Sainte-Justine when eligibility criteria established by RAMQ are met. For cases not covered by RAMQ, Miacleo works with an external laboratory for preimplantation genetic testing.
PGT-SR: Preimplantation Genetic Testing for Structural Rearrangements
PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) identifies abnormalities in the structure of chromosomes. These rearrangements include translocations, inversions, or deletions, which may be present in one parent and lead to chromosomal imbalances in embryos.
WHO IS IT FOR? PGT-SR is specifically intended for couples in which one partner carries a known chromosomal rearrangement identified through a karyotype analysis. These rearrangements may contribute to recurrent miscarriages or implantation failures in couples whose other fertility factors appear normal.
WHAT DOES IT INVOLVE? Like PGT-A, PGT-SR is integrated into an IVF cycle and involves embryo biopsy at the blastocyst stage. These tests may be validated by CHU Sainte-Justine when eligibility criteria established by RAMQ are met. For cases not covered by RAMQ, Miacleo works with an external laboratory for preimplantation genetic testing. Embryos are vitrified while awaiting results, and only embryos with a balanced chromosomal arrangement will be prioritized for transfer.
WHO IS IT FOR? PGT-SR is specifically intended for couples in which one partner carries a known chromosomal rearrangement identified through a karyotype analysis. These rearrangements may contribute to recurrent miscarriages or implantation failures in couples whose other fertility factors appear normal.
WHAT DOES IT INVOLVE? Like PGT-A, PGT-SR is integrated into an IVF cycle and involves embryo biopsy at the blastocyst stage. These tests may be validated by CHU Sainte-Justine when eligibility criteria established by RAMQ are met. For cases not covered by RAMQ, Miacleo works with an external laboratory for preimplantation genetic testing. Embryos are vitrified while awaiting results, and only embryos with a balanced chromosomal arrangement will be prioritized for transfer.
Q: Do genetic tests guarantee a pregnancy?
A: No. Genetic testing can increase the chances of success by helping identify embryos with the best potential for transfer, but it does not eliminate all risks. Other factors influence implantation and pregnancy development. Your physician will explain what these tests can and cannot predict.
Q: Can all embryos be tested?
A: Biopsy for PGT-A, PGT-SR, and PGT-M requires the embryo to reach the blastocyst stage, which occurs around day 5 or 6 of development. Not all embryos reach this stage. Embryos that do not develop to this point cannot be tested or transferred.
Your embryology team will inform you of the number of embryos available for testing after each cycle.
Q: How long does it take to receive the results?
A: PGT results are generally available within approximately 2 weeks, depending on the type of test performed. During this time, embryos are preserved through vitrification. The transfer is planned during a subsequent cycle, once the results have been received and discussed with your physician.
Q: Are genetic tests covered by RAMQ?
A: PGT-M and PGT-SR may be covered by RAMQ when eligibility criteria are met. PGT-A and NiPGT-A are not covered and are the patient’s responsibility. Our team can review the expected costs and possible reimbursement options with you before treatment begins.
If you have additional questions regarding preimplantation genetic testing, please contact our embryology department at embryologie@miacleo.com. Our team will be happy to answer your questions as soon as possible.