PGT-M or Preimplantation Genetic Testing for Mendelian disorders is a technique applied to determine specific (hereditary) genetic abnormalities that may compromise your baby's health.
Reproductive health science has developed effective tools to significantly reduce the chances of having a baby with a genetic abnormality by analyzing embryos before their transfer to the uterus in an In Vitro Fertilization process.
There are various hereditary genetic abnormalities that can be classified into three groups: autosomal dominant, autosomal recessive, and numerical abnormalities.
Many times we are unaware whether we are carriers of hereditary diseases, and carrying them represents a risk for our future children. If you would like to learn about any potential risks, at Ingenes we can guide you, so you can have better family planning with your Assisted Reproduction treatment.
What is a PGT-M test?
PGT-M is a test to rule out specific hereditary diseases associated with single gene mutations (monogenic) or caused by a chromosomal rearrangement (translocations and inversions).
Genetic alterations occur due to a mutation, insertion, or deletion that affects the proper functioning of genes.
On the other hand, rearrangements occur when a chromosome breaks and the fragmented pieces are added out of place to different chromosomes or within the same chromosome.
This could compromise the well-being of your future baby, predisposing them to develop a syndrome that could be prevented.
Preimplantation Genetic Testing is available as a complementary technique for people undergoing assisted reproduction treatment such as In Vitro Fertilization (IVF), reducing the chances of the baby being born with certain hereditary genetic disorders.
Who is PGT-M intended for?
The PGT-M test is usually recommended by specialists in Assisted Reproduction for people who are at risk of passing on a specific genetic disease, particularly those who are within the following groups:
• Patients with a family history of any hereditary genetic disorders.
• Patients who have or have had a child with any hereditary genetic disorders.
• Patients who have been diagnosed as carriers or affected by any hereditary genetic disorder.
• Patients who belong to the same community or have a history of consanguinity.
The main syndromes that can be detected with a PGT-M are:
There are many syndromes that can compromise the quality of life of your future baby. PGT-M detects a specific mutation, deletion, or insertion present in a single gene, which results in a specific disorder, with a high probability of being passed on from parents to children. That is to say, PGT-M detects diseases associated with a change in a single gene.
Some of the genetic alterations this test can detect include:
• Cystic fibrosis • Spinal Muscular Atrophy • Duchenne Muscular Dystrophy • Fragile X Syndrome • Hemophilia • Thalassemia • Tay-Sachs Disease • Chromosomal rearrangements such as translocations and chromosomal inversions •Among others.
Click for a complete list of diseases that we can detect with a PGT-M, this is at the discretion of your treating physician:
Consult your leading specialist about the possibility of carrying out a screening for any of the genetic disorders listed above*
How is the PGT-M test performed?
At Ingenes, our PGT-M includes the analysis of chromosomal numerical abnormalities (PGT-A), in addition to the analysis of the specific genetic alteration carried by the patient. The process we carry out at Ingenes works the following way:
1.
The process begins with the collection of patient information, including genetic studies and family history, to identify their needs. With this information, it is possible to determine whether they are candidates for the test or whether an informative study is required to characterize the specific genetic mutation of interest.
2.
If necessary, an informative study is conducted, which is accompanied by personalized genetic counseling to determine whether patients are candidates for PGT-M.
3.
The test is carried out in the In Vitro Fertilization (IVF) laboratory by an expert in Assisted Reproduction, then, embryos with the best potential are selected for analysis.
4.
This technique begins with the biopsy collection without interfering with embryo development on the 3rd, 5th, or 6th day of development, to be analyzed with the help of advanced molecular biology techniques, using the best available technology on the market.
5.
The genomic analysis is carried out, where the results show which embryos are free of specific genetic disorders (PGT-M) and free of chromosomal aneuploidies (PGT-A).
6.
Finally, a second genetic counseling session is provided to explain to the patients their options for selecting the best embryos to transfer.
You will be in the best hands!
Our research team is dedicated to innovation and education in reproductive sciences, developing cutting-edge technology and tests such as PGT-A, in partnership with renowned researchers from Cinvestav-IPN.
Reach out to us and find the assurance you need.
Schedule an appointment with us to detect specific genetic alterations that may compromise the quality of life of your future baby. Click on the button below to schedule your appointment and have our clinical geneticists determine if you are a candidate for this test.
