PREIMPLANTATION GENETIC TESTING (PGT)

TEST GENÈTIC
PREIMPLANTACIONAL (PGT)

WHAT IS PREIMPLANTATION GENETIC TESTING?

Preimplantation Genetic Testing (PGT) is a technique associated with an IVF treatment with ICSI, which allows the selection of genetically and/or chromosomally healthy embryos to be transferred to the uterus. This technique, therefore, increases the chances of pregnancy from an IVF and, ultimately, achieves children free of hereditary diseases. The embryos selected for transfer will be selected with three parameters: morphological, kinetic and genetic, thus increasing the chances of pregnancy and reducing the risk of miscarriage.

MACS i FERTILE Tècniques de selecció espermatozoides

IN WHAT CASES IS IT INDICATED?

  • Advanced maternal age (> 40 years)
  • Repeated miscarriages
  • Patients with previous genetic disease pregnancies
  • Repeated implantation failures
  • Severe male factor (altered FISH)
  • Carriers of monogenic diseases (disease caused by a mutation in a point gene) (PGT-M)
  • Carriers of chromosomal reorganizations in the karyotype (translocations, inversions …) (PGT-SR)

 PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDIES (PGT-A)

PREIMPLANTATIONAL GENETIC TESTING FOR ANEUPLOIDIES (PGT-A) 

WHAT DOES THE PREIMPLANTATION GENETIC TESTING PGT-A INVOLVES?

It allows us to detect embryos with abnormal chromosome endowment (anneploidies). Embryos with an incorrect number of chromosomes do not normally lead to pregnancy or may result in the birth of a child with different affectations.

PGT-A allows us to identify embryos with the correct number of chromosomes, thus increasing the probability of pregnancy.

STAGES OF PGT-A PROCESS

An IVF process is performed with the ICSI technique leaving the embryos in culture until the blastocyst stage (D+5). In this stage the embryos are biopsied. To perform the biopsy  a hole is made in the zona pellucida of the embryo, in order to access the cells of the external layer (trophoectoderm) and extract a small number for analysis.

The embryo is frozen with the vitrification technique while waiting for the results of the genetic analysis.

Once the results are obtained (3 weeks), the patient’s uterus is prepared for the transfer of one of the genetically correct embryos. If there are more healthy embryos that are not transferred, they are frozen for possible future transfers.

PREIMPLANTATION GENETIC TESTING FOR DETECTION OF MONOGENIC DISEASES (PGT-M)

PREIMPLANTATION GENETIC TESTING FOR DETECTION OF MONOGÉNIC DISEASES (PGT-M)

WHAT DOES THE PREIMPLANTATION GENETIC TESTING PGT-M INVOLVES?

Monogenic hereditary diseases are those caused by the alteration or mutation in the DNA sequence of a single gene. Some examples are Cystic Fibrosis and Sickle Cell Disease.

PGT-M allows us to select those embryos that are not affected by a particular monogenic disease.

STAGES OF PGT-M PROCESS

To perform a PGT-M, a previous informativity study of the mutation or alteration that causes the disease must be carried out. This study is necessary to have designed the strategy for detecting the mutation or alteration in the embryos.

Once this process is done, you can start the In Vitro Fertilization cycle and follow the same procedure as in the PGT-A.

PREIMPLANTATION GENETIC TESTING- STRUCTURAL REARRANGEMENTS (PGT-SR)

PREIMPLANTATION GENETIC TESTING- STRUCTURAL REARRANGEMENTS (PGT-SR)

WHAT DOES THE PREIMPLANTATION GENETIC TESTING PGT-SR INVOLVES?

Structural chromosomal abnormalities (translocations, deletions, inversions, insertions, duplications, anellations …) in one of the members of the couple can be the cause of sterility or infertility.

PGT-SR allows us to detect structural chromosome abnormalities in the embryos, thus selecting those that are healthy or chromosomally balanced.

STAGES OF PGT-SR PROCESS

The procedure for PGT-SR is the same as PGT-A, although a translocation informativity study may be necessary prior to the In Vitro fertilization process.

MAKE AN APPOINTMENT

It’s quite simple. All you have to do is contact Embriogyn and make an appointment with our specialists at the time that suits you best. In case you can’t come in person to the clinic, visits can also be arranged via Skype.

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