Preimplantation Genetic Testing

The Preimplantation Genetic Testing (PGT) is included in preventive medicine. This is a specialized area of the genetic diagnosis, relatively recent as it started in  laboratories of assisted reproduction at the beginning of the 90´s. Nowadays it represents a real alternative to antenatal diagnosis.

This type of diagnosis is composed by a range of techniques that allow to diagnose a determined genetic condition in the embryo, which has been obtained in vitro fertilisation (IVF), with the purpose of transferring a healthy embryo to the mother´s uterus so that the couple can get a healthy newborn at home.

screening aneuploidias

enfermedades monogenicas
comb dpg
anomalias estructurales

pdf Preimplantation Genetic Test Application Form

Preimplantation Genetic Testing for aneuploidy

Preimplantation Genetic Test for aneuploidy (PGT-A) is a technique of genetic analysis, which detects the loss or increase of genomic regions that can appear in a DNA sample in a global way, that is to say, it studies the whole genome at the same time, the 23 couples of chromosomes without selection or bias, choosing the healthy diploid embryos for the transfer to the uterus.

The analysis is performed at high resolution and in an automatic way and the interpretation of the results is done by computer software.

Stages

The couple starts the ovarian stimulation protocol in the (IVF) centre. The purpose of the stimulation is to achieve the correct development and maturity of the ovarian follicles, which contain the oocytes ( ovules). When the desired maturity of the follicles is reached, the follicular puncture is scheduled. The same day of the puncture the in vitro insemination is done. The following day we will be able to check the number of oocytes that have become fertilised.
To carry out the PGD it is necessary to analyse the DNA of each embryo, in order to do so, the embryo biopsy is done to the evolutionary embryos. The biopsy will only be carried out in those embryos that have a correct embryonic development.
Subsequence to the biopsy, the genetic analysis of the biopsied cells is done, while the embryos remain in culture in the IVF laboratory.
Those embryos diagnosed as healthy are transferred to the mother´s uterus.

Techniques applied

In Geniality we use the NGS (Next Generation Sequencing) technique to perform the Preimplantation Genetic Testing for aneuploidy and the Preimplantation Genetic Testing for structural anomalies.

Monogenetic Diseases

The Preimplantation Genetic Testing for monogenic diseases (PGT-M) lets carrier couples of severe genetic diseases analyse that genetic alteration in their embryos and select those healthy embryos for the transfer to the mother´s uterus. It has been more than 20 years since the PGT-M started to be used in clinic and it represents an alternative to prenatal diagnosis for these couples. Since then, the number of couple who recur to the PGT-M to plan a pregnancy has been increasing.

Geniality, centre specialized in this technique, has developed PGT-M protocols for numerous diseases so far and collaborates actively with different associations of ill people. Therefore the PGT-M allows us to diagnose any pathology as long as this fulfils with certain requirements:

  • When it concerns a severe disease of genetic origin and early appearance.
  • When there is a correct clinical diagnosis, that is to say, that the gen originating the pathology is known, the mutation (or mutations) originating the disease have been determined or there exist some family clinical records.
  • When there is no postnatal therapeutic treatment for that disease.

pdf Documentation National Commission on Assisted Human Reproduction

Stages

It is highly recommended that the couple who recur to this technique can attend the consultation of a professional with a wide experience on genetics, knowledge of embryology  as well as the techniques of the Preimplantation Genetic Diagnosis. The purpose is to be able to evaluate their reproductive history and to offer an appropriate genetic counselling to the patients.
Previous study to the cycle of IVF, which is done from the DNA of the applicant couple and their relatives.

Although the diagnosis protocols are highly standardized , it is necessary to adjust them to the applicant´s family. In order to do so, it is necessary to have the clinical and molecular reports of the carrier or carriers available, as well as a blood sample or mouth smear of each member of the family, which is necessary to develop the diagnosis protocol. This study allows us to follow the track of the disease along the members of a family, using a battery of the genetic markers and establish this way the diagnosis protocol, which will be carried out later in the phase of the PGD. The study has a response time of 30 days. Until the report is not issued the IVF cycle can not be started.

Once the Informativity study is concluded, the couple starts the ovarian stimulation protocol in the IVF centre. The finality of the stimulation is to achieve the correct development and maturity of the ovarian follicles, which contain the oocytes (ovules). When the desired maturity of the follicles is reached, the follicular puncture is scheduled. The same day of the puncture the in vitro insemination is done. The following day we will be able to check the number of oocytes that have become fertilised.
To carry out the PGD it is necessary to analyse the DNA of each embryo, in order to do so, the embryo biopsy is done to the evolutionary embryos. The biopsy will only be carried out in those embryos that have a correct embryonic development.
Subsequence to the biopsy, the genetic analysis of the biopsied cells is done, while the embryos remain in culture in the IVF laboratory.
Those embryos diagnosed as healthy are transferred to the mother´s uterus.

COMB PGD

The Preimplantation Genetic Diagnosis lets carrier couples of severe genetic diseases analyse that genetic alteration in their embryos and select those healthy embryos for the transfer to the mother´s uterus. It has been more than 20 years that The PGD  started to be used in clinic and it represents an alternative to prenatal diagnosis for these couples. Since then, the number of couple who recur to the PGD to plan a pregnancy has been increasing.

Geniality  has developed a technique called COMB PGD, which allows to combine the analysis of the 23 couples of chromosomes together with the study of a monogenetic disease, increasing with this the effectiveness of the diagnosis and the chances of pregnancy.

Stages

It is highly recommended that the couple who recur to this technique can attend the consultation of a professional with a wide experience on genetics, knowledge of embryology  as well as the techniques of the Preimplantation Genetic Diagnosis. The purpose is to be able to evaluate their reproductive history and to offer an appropriate genetic counselling to the patients.
Previous study to the cycle of IVF, which is done from the DNA of the applicant couple and their relatives.

Although the diagnosis protocols are highly standardized , it is necessary to adjust them to the applicant´s family. In order to do so, it is necessary to have the clinical and molecular reports of the carrier or carriers available, as well as a blood sample or mouth smear of each member of the family, which is necessary to develop the diagnosis protocol. This study allows us to follow the track of the disease along the members of a family, using a battery of the genetic markers and establish this way the diagnosis protocol, which will be carried out later in the phase of the PGD. The study has a response time of 30 days. Until the report is not issued the IVF cycle can not be started.

Once the Informativity Study is concluded, the couple starts the ovarian stimulation protocol in the IVF centre. The finality of the stimulation is to achieve the correct development and maturity of the ovarian follicles, which contain the oocytes (ovules). When the desired maturity of the follicles is reached, the follicular puncture is scheduled. The same day of the puncture the in vitro insemination is done. The following day we will be able to check the number of oocytes that have become fertilised.
To carry out the PGD it is necessary to analyse the DNA of each embryo, in order to do so, the embryo biopsy is done to the evolutionary embryos. The biopsy will only be carried out in those embryos that have a correct embryonic development.
Subsequence to the biopsy, the genetic analysis of the biopsied cells is done, while the embryos remain in culture in the IVF laboratory.
Those embryos diagnosed as healthy are transferred to the mother´s uterus.

Structural anomalies

The diagnosis of structural anomalies is a technique of genetic analysis that detects the loss or increase of regions, the 23 couples of chromosomes as well as the structural anomaly are analysed.

With this technique the embryos obtained through in vitro fertilisation can be analysed to search structural chromosomal alterations (reciprocal or robertsonian translocations; inversions) selecting those healthy or chromosomally normal embryos before their transfer to the mother´s uterus.

The PGD increases the probabilities of pregnancy and what is more, the chances of pregnancy to be accomplished or a baby born.

Stages

The couple starts the ovarian stimulation protocol in the IVF centre. The finality of the stimulation is to achieve the correct development and maturity of the ovarian follicles, which contain the oocytes (ovules). When the desired maturity of the follicles is reached, the follicular puncture is scheduled. The same day of the puncture the in vitro insemination is done. The following day we will be able to check the number of oocytes that have become fertilised.
To carry out the PGD it is necessary to analyse the DNA of each embryo, in order to do so, the embryo biopsy is done to the evolutionary embryos. The biopsy will only be carried out in those embryos that have a correct embryonic development.
Subsequence to the biopsy, the genetic analysis of the biopsied cells is done, while the embryos remain in culture in the IVF laboratory.
Those embryos diagnosed as healthy are transferred to the mother´s uterus.