Treatments

Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) is a diagnostic technique that enables us to identify changes in genes or chromosomes of an embryo before it is transferred to the uterus, thus making possible that children be born healthy and to eradicate a genetic disease of a family.

What is PGD?
Preimplantation Genetic Diagnosis (PGD) is a diagnostic technique that enables us to identify changes in genes or chromosomes of an embryo before it is transferred to the uterus, thus making possible that children be born healthy and to eradicate a genetic disease of a family.

Which patients need the PGD?
Patients that may benefit from PGD are those who have:

Repeated implantation failures
Patients who do not achieve pregnancy after several transfers of morphologically good quality embryos; in these cases, it is confirmed by means of genetic analysis the existence of many embryos with abnormal number of chromosomes, which could explain previous gestation failures.

Women over 38-40 years
The risk of chromosomal defects increases as maternal age advances, due to aging of the eggs that causes a higher risk of incorrect distribution of chromosomes to daughter cells. This increases the chance of producing embryos with chromosomal abnormalities, which would result in a greater number of abortions, fetuses with problems and repeated failures of implantation.

Previous history of spontaneous abortions
In patients with no other cause of abortion it has been proven that over 50% of their embryos have chromosomal abnormalities, this being the cause of pregnancy loss.

Men with severe male factor
It has been detected that there is a significant increase in sperm chromosomal abnormalities in a high percentage of men with low sperm quality, which would result in embryos with chromosomal defects. In this group of patients with significantly impaired sperm quality, prior to treatment a study of the chromosomes in the sperm by the FISH technique should be made, and if this analysis results in a high number of cells with altered chromosomes, PGD should be indicated.

Translocations, inversions or other chromosomal abnormalities
Patients who have any of these balanced structural chromosomal abnormalities have no clinical signs but can generate gametes, eggs and sperm with chromosomal imbalances, thus giving rise to embryonic chromosomal abnormalities that cause failure of implantation, abortions or children with genetic disorders.

Monogenic diseases
Monogenic diseases, are caused by mutations in the genome, and depending on how they are inherited, in a dominant or recessive manner, will affect in different ways the couple’s descendants. For the diagnosis of these diseases in the embryos, very sophisticated techniques of molecular biology are used. Currently there are many monogenic diseases that can be diagnosed in the embryo, among others: cystic fibrosis, Duchenne and Beckett muscular dystroph, fragile X syndrome, thalassemia, sickle cell anemia, Marfan syndrome, and much more.

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