Preimplantation Genetic Testing (PGT)

In assisted reproduction, preimplantation genetic testing (PGT) involves analysing the embryo’s DNA during in vitro fertilisation, in order to select healthy embryos more efficiently. To do this, a biopsy of the blastocyst stage embryo is performed and analysed using genetic techniques.

This technique increases the chances of pregnancy in each attempt, and more importantly, avoids the use of abnormal embryos that will result in a miscarriage or no pregnancy, since it examines the embryo for possible genetic abnormalities even before the embryo has been implanted.

Doctora realizando una ecografía a mujer embarazada tumbada.

This technique increases the chances of pregnancy in each attempt, and more importantly, avoids the use of abnormal embryos that will result in a miscarriage or no pregnancy, since it examines the embryo for possible genetic abnormalities even before the embryo has been implanted.

There are different types of PGT:

PGT-A: diagnosis of aneuploidy. This test determines the chromosomal status of the embryos, detecting syndromes such as Down, Patau, Turner syndrome...

PGT-M: diagnosis of monogenic diseases. In patients who are carriers or those who have a particular monogenic disease, this test looks for the presence of this mutation in embryos, selecting healthy ones to transfer. It prevents the transmission of serious diseases to the baby.

PGT-SR: diagnosis of structural anomalies. Within the population, there are structural abnormalities in chromosomes that lead to fertility problems. These abnormalities do not in many cases give rise to disease in the patient, but they do impair their reproductive capacity. PGT-SR testing selects healthy embryos, achieving safe pregnancies and reducing the risk of miscarriage.

There are different types of PGT:

PGT-A:

diagnosis of aneuploidy. This test determines the chromosomal status of the embryos, detecting syndromes such as Down, Patau, Turner syndrome...

PGT-M:

diagnosis of monogenic diseases. In patients who are carriers or those who have a particular monogenic disease, this test looks for the presence of this mutation in embryos, selecting healthy ones to transfer. It prevents the transmission of serious diseases to the baby.

PGT-SR:

diagnosis of structural anomalies. Within the population, there are structural abnormalities in chromosomes that lead to fertility problems. These abnormalities do not in many cases give rise to disease in the patient, but they do impair their reproductive capacity. PGT-SR testing selects healthy embryos, achieving safe pregnancies and reducing the risk of miscarriage.

PGT is a technique that is carried out within an IVF cycle. This technique involves performing an embryonic biopsy in the blastocyst stage (5-6 days of embryonic development). On day 3 of development, an assisted hatching technique is carried out on the embryos that involves using a laser to make a hole in the zona pellucida.

Thanks to this hole, it is easier for the embryos to hatch earlier and for part of their trophoectoderm to leave the zona pellucida (the trophoectoderm is the part of the embryo that will give rise to the placenta, while the zona pellucida is a protein layer that surrounds and protects the embryo). Using a laser, we biopsy a part of that hatched trophoectoderm. The biopsied cells are then sent to a laboratory where the genetic material of the cells will be analysed, mainly by means of mass sequencing techniques.

Once we have the results, we will know which embryos are genetically normal and can therefore be transferred.

PGT is a technique that is carried out within an IVF cycle. This technique involves performing an embryonic biopsy in the blastocyst stage (5-6 days of embryonic development). On day 3 of development, an assisted hatching technique is carried out on the embryos that involves using a laser to make a hole in the zona pellucida.

Thanks to this hole, it is easier for the embryos to hatch earlier and for part of their trophoectoderm to leave the zona pellucida (the trophoectoderm is the part of the embryo that will give rise to the placenta, while the zona pellucida is a protein layer that surrounds and protects the embryo). Using a laser, we biopsy a part of that hatched trophoectoderm. The biopsied cells are then sent to a laboratory where the genetic material of the cells will be analysed, mainly by means of mass sequencing techniques.

Once we have the results, we will know which embryos are genetically normal and can therefore be transferred.

Doctor realizando ICSI.
Doctor realizando ICSI.

PGT is a technique that is carried out within an IVF cycle. This technique involves performing an embryonic biopsy in the blastocyst stage (5-6 days of embryonic development). On day 3 of development, an assisted hatching technique is carried out on the embryos that involves using a laser to make a hole in the zona pellucida.

Thanks to this hole, it is easier for the embryos to hatch earlier and for part of their trophoectoderm to leave the zona pellucida (the trophoectoderm is the part of the embryo that will give rise to the placenta, while the zona pellucida is a protein layer that surrounds and protects the embryo). Using a laser, we biopsy a part of that hatched trophoectoderm. The biopsied cells are then sent to a laboratory where the genetic material of the cells will be analysed, mainly by means of mass sequencing techniques.

Once we have the results, we will know which embryos are genetically normal and can therefore be transferred.

Doctor realizando ICSI.

Suitable for:

Advanced age (women aged 38 years or older).

Repeat miscarriage.

Implementation failures (multiple failed IVF/ICSI cycles).

Serious male factor infertility.

History of offspring with chromosomal disease.

History of miscarriages where the foetus has aneuploidy (incorrect number of chromosomes).

One or both parents are carriers of an inherited genetic disease.

One or both parents have an altered karyotype.

The parents have had a sick child who needs a blood cell transplant and decide to have another healthy and compatible child.

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Ángeles Bretón

CLINICAL EMBRYOLOGIST

Dr. Carlos Javier Vega Reina

GYNAECOLOGIST

Dr. María Miró

IMMUNOLOGIST

Dr. María Eugenia Molina

HEMATOLOGIST

Elena Mantrana Bermejo

Gynecologist. Specialist in Reproductive Medicine

  • Degree in Medicine and Surgery from the University of Seville.
  • Specialty in Obstetrics and Gynecology at Hospital Universitario de Valme, Seville.
  • Master’s Degree in Human Reproduction from the Universidad Rey Juan Carlos.
  • Specialist Physician of the Andalusian Health Service in the South Health Management Area (AGSS) of Seville.
  • Coordinator of the Assisted Human Reproduction Unit of the Hospital Universitario de Valme, Seville.
  • Member of the Human Reproduction Advisory Committee of AGSS of Seville.
  • Member of the working group for the update of the Guide for Assisted Human Reproduction of the Ministry of Health of the Andalusian Regional Government.
  • Tutor of Specialist Doctors in Training of the Teaching Area of the University Hospital of Valme.
  • Clinical Tutor Medical Students University of Seville

Alberto Armijo

Gynecologist. Reproductive Medicine Specialist