PGD or Preimplantation Genetic Diagnosis

PGD: Preimplantation Genetic Diagnosis

The PGD allows to study the DNA of eggs or embryos to select those that meet certain characteristics.

This technique’s objective is to prevent the transmission of inherited diseases.
It is useful when there are previous chromosomal or genetic disorders in the family and within the context of in vitro fertilization programs.
CAN BE PERFORMED EITHER ON THE EGGS OR ON THE EMBRYOS, THE LATTER DELIVERING THE BEST RESULTS.
Looking for the genetic alterations that affect a particular gene, one can avoid the transmission of diseases such as cystic fibrosis, thalassemia or muscular dystrophy, among others
Chromosomal alterations affect either the number or the structure of chromosomes. This technique allows their detection as well as the detection of other alterations, such as, Turner and Down syndromes
Looking for the genetic alterations that affect a particular gene, one can avoid the transmission of diseases such as cystic fibrosis, thalassemia or muscular dystrophy, among others.

Chromosomal alterations affect either the number or the structure of chromosomes. This technique allows their detection as well as the detection of other alterations, such as, Turner and Down syndromes.

Genetic study
Following the in vitro fertilization and before transfer into the uterus, a study of the genetic material of the embryo is carried out to detect possible genetic defects.

It can be performed when the embryos are at the 6-8 cell stage, which is usually on the 3rd day of their development, or at the blastocyst stage, which is on the 5th day of their development, depending on the case.

Embryo Biopsy
A biopsy is performed on each of the embryo to discard those with concrete congenital flaws.

Embryo transfer
1 to 3 healthy embryos are transferred.

The embryos that are not transferred can be frozen.

Preimplantation Genetic Diagnosis (PGD)
A

Genetic study. Following the in vitro fertilization and before transfer into the uterus, a study of the genetic material of the embryo is carried out to detect possible genetic defects. It is performed when the embryos are between 6 and 8 cells, usually on day 3 of development

B

Embryo Biopsy. A biopsy is performed on each of the embryo to discard those with concrete congenital flaws
C

Embryo transfer. From 1 to 3 healthy embryos are transferred. The embryos that are not transferred can be frozen

The PGD or Preimplantation Genetic Diagnosis is a laboratory technique that allows studying the DNA of eggs or embryos to select those that meet certain characteristics and / or exclude those with certain hereditary disorders.

This technique is especially useful when there is a history of genetic or chromosomal disorders in the family.

The diagnosis can be obtained in two different ways:

Pre-Implantation Genetic Diagnosis with embryos

We study the embryos prior to transferring them to the uterus. This study is carried out at our laboratory once fertilisation IN VITRO has taken place.

This study is performed when the embryos are either at the 6-8 cell stage, which is on the 3rd day of their development, or at the blastocyst stage, which is on the 5th day of development, depending on the case. A biopsy of each of them is done and those with a particular genetic disorder are discarded leaving only the healthy embryos to be transferred into the uterus.

Preconception Diagnosis with eggs

The genetic diagnosis of eggs allows us to detect genetic or chromosomal disorders in eggs before the embryo is formed.

This technique analyses a specific part of the egg, the polar body, so it can only detect inherited diseases of maternal origin.

In order to study the mature egg a polar body biopsy is carried out by making a small opening in the zona pellucida that surrounds it. Having identified the normal eggs, they are inseminated by Intracytoplasmic Sperm Injection (ICSI) thus obtaining embryos suitable for transfer to the uterus.

Genetically inherited diseases

Last Updated: January, 2017
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