PGT Genetic Testing

We offer tests on fertilized embryos in our laboratory to screen for genetic diseases that may affect future babies. One of these tests is the Preimplantation Genetic Testing (PGT).

What is PGT?

In In Vitro Fertilization treatments, if a doctor has indicated it beforehand, or if patients wish to, PGT is performed before transferring the embryo to the maternal uterus. PGT involves performing a biopsy of the pre-embryos to identify which ones are healthy and which ones are affected by certain genetic-hereditary diseases. This analysis allows specialist doctors to transfer a healthy embryo and thus ensure the birth of a healthy baby.

What types of PGT are there and what diseases do they detect?

  • PGT-SR: Used to analyze structural abnormalities in chromosomes. It is recommended when at least one of the parents has an alteration in the structure of their chromosomes or has a genetic disease.
  • ¡NEW! Smart PGT-A PLUS: Through the use of Artificial Intelligence, this test not only allows the analysis of complete sets of chromosomes but also evaluates the genetic relationship between embryos, and provides more precise results regarding embryos for transfer. One of the most common and well-known diseases detected by this technique is Down syndrome and Edwards syndrome.
  • PGT-M: Used for the detection of monogenic diseases, that is, those linked to the mutation of a single gene. It also identifies the specific alteration or mutation in the embryos that would cause a monogenic disease. Some of the most well-known diseases include Cystic Fibrosis and Muscular Dystrophy. Additionally, it is necessary to identify which genetic diseases the parents are carriers of in order to obtain a complete profile.

Smart PGT-A Plus: What are its advantages?

  • More confidence and accuracy in results
  • Increases the number of viable embryos available for transfer
  • Uses Artificial Intelligence and big data for result analysis
  • Increases the chances of successful pregnancy by identifying optimal embryos for transfer
  • Reduces the risk of miscarriages

Step-by-step procedure

  • Analysis of carrier parents for genetic diseases, both translocations and mutations.
  • Create a specific probe for that mutation (in the case of monogenic diseases).
  • After 5 days of fertilization in the laboratory, a pre-embryo biopsy is performed, which involves extracting cells from each pre-embryo. This procedure does not involve any risk to embryonic development, and once completed, the pre-embryos are frozen until the results are obtained.
  • Our team of professionals analyzes the sample that was subjected to genetic testing and selects the best embryo to be transferred to the maternal uterus.

Many people turn to reproductive medicine due to infertility problems, recurrent miscarriages, or because they suspect they may be carriers of genetic diseases and are afraid of passing them on to their children. All of these cases, along with women over forty who are unable to conceive naturally, are candidates for PGT with NGS (Next Generation Sequencing) technique to achieve a healthy baby pregnancy. This technique features technology specifically designed to detect variations in DNA sequences.

Why is it important to study the genes and chromosomes of the pre-embryo?

There are diseases where the cause originates in chromosome and gene alterations that occur before birth and, in most cases, are incurable or cause complications during pregnancy. As explained above, thanks to advances in reproductive medicine and medical genetics, studies can be conducted on pre-embryos to identify those that do not contain these alterations and will give rise to a healthy baby.

Studying chromosomes is important because they are made up of DNA, where genetic information is stored and fragmented into genes. Each cell in our body is made up of 46 chromosomes: an individual’s genetic information comes from the 23 chromosomes contributed by the father and the other 23 from the mother.

Diseases caused by chromosomal alterations occur when the number of copies of each chromosome is modified, meaning that instead of two copies of each chromosome, there is one, three, or more. They also occur when there is a variation in the content of a chromosome or when there is a mutation in a single gene, which causes monogenic diseases such as Cystic Fibrosis, Hemophilia, and Myotonic Dystrophy, among others.

Frequently Asked Questions

Smart PGT-A Plus is particularly useful in various scenarios, such as: women over 35 years old, history of recurrent miscarriages, previous IVF failures, prior birth or pregnancy with chromosomal abnormality, severe male factor or high rate of sperm diploidy, previous pregnancy with triploid embryos, and previous molar pregnancy.

Preimplantation Genetic Testing (PGT) is recommended in several cases. For example, if you are a carrier of genetic diseases and are afraid of transmitting them to your children, or if you have infertility problems, recurrent miscarriages, or if you are a woman over 40 who cannot conceive naturally. In these cases, PGT can help you achieve a pregnancy with a healthy baby, as it allows for the examination of all 23 pairs of chromosomes to rule out any abnormalities before implantation.

Hereditary diseases are those passed from parents to children through genes. In these cases, parents carry a mutation that can cause severe diseases when transmitted to their children. There are different types of inheritance and severity in their expression, but many are diagnosable and can be avoided. The most common ones are Cystic Fibrosis, Thalassemias, and Muscular Dystrophy. These and many others can be detected by the PGT-M technique or Preimplantation Genetic Diagnosis for monogenic diseases.

However, genetic diseases associated with advanced maternal age or that cause repeated miscarriages are much more frequent. In this group, the most common include Down syndrome, Edwards syndrome, Patau syndrome, and other more complex anomalies. These are detected by Smart PGT-A Plus or Preimplantation Aneuploidy Genetic Testing. This test is also used as a screening tool in women over 37 years old who want to ensure the transfer of a healthy embryo, reducing abortion rates and shortening reproductive timelines.

PGT is a highly reliable technique for detecting genetic-hereditary diseases in embryos before implantation. It allows specialized doctors to transfer a healthy embryo, thus ensuring the birth of a healthy baby. However, like any medical test, it may have a very small margin of error, less than 1%. It is important to discuss with your doctor the reliability of the results and understand that, although PGT can reduce the risk of certain conditions, it cannot guarantee 100% of the baby’s health. There are many pathologies that can affect a pregnancy that are not associated with the embryo’s genetics.

After performing pre-embryonic biopsy, which involves extracting cells from each pre-embryo, the pre-embryos are frozen until the genetic analysis results are completed. The exact time may vary, but generally, Smart PGT-A Plus study results are available in approximately 21 days. PGTM results require more detailed analysis, so they take longer. It is important to talk to your doctor to understand how long it may take in your specific case.