CONCEPTION by pre implantation genetic diagnosis (PGD)

Why is the Genetic Diagnosis useful before the implantation?
Because it offers the possibility to analyze the presence of chromosomal and genetic abnormalities in embryos before being transferred to the uterus and, therefore, before implantation has occurred, as well as the pregnancy with some of the ith some of the analyzed alterations. It is an alternative to prenatal diagnosis in couples at high risk of transmitting chromosomal abnormalities or gene to their offspring

Who gets benefited from PGD?

  • Patients older than 37 in whom the risk of Down syndrome and other disorders is higher, the clearest manifestation is the increase in abortions and children with problems at birth, this trend increases even more after the age of 40.
  • Patients with recurrent abortions and / or unexplained losses.
  • Patients at risk of transmitting any abnormality to their offspring.
  • Patients in assisted reproduction treatments have had an implantation failure.

How do I know that I am a candidate for PGD?
The Genetic Counseling in preimplantation genetic diagnosis is the backbone of treatment as only the experience and knowledge of each disease explained by the treating physician will help you make that decision with your partner because in some cases, delays the disease , it gives you a reproductive advice, the therapeutic treatment improves, and most important thing is that it gives you a better personal and familiy point of view and even more when you have a sick child at home.

What is PGD all about?

1 .- Embryo Biopsy
It is about extracting 1 or 2 cells from an embryo by using micromanipulation techniques. To do this, make a small hole in the outer shell of the embryo, the zona pellucida, which allows the introduction of a thin micropipette to aspirate the embryonic cell. The removed cell is processed for a subsequent genetic or a chromosomal analysis and the embryo continues its normal development . photo of the whole process

2.- Chromosomal or genetic analysis of two techniques are carried out depending on what we are going to be looking for in one of them consider the main chromosomes involved in the most common chromosomal abnormalities such as: tris mine 21 (Down syndrome), 13 (S.Patau), 18 (S. Edwards) or alterations in the sex chromosomes (S. Turner or Klinefelter S.) and other numerical abnormalities that cause repeated abortions or offspring with anomalies. This technique allows us to identify the sex chromosomes X and Y to determine the sex of embryos in sex-linked diseases (more than 300 diseases), for example, hemophilia or Duchenne muscular dystrophy. This diagnosis also allows the study of other structural chromosomal abnormalities, called translocations. In parents who carry an alteration of this type we can select normal embryos for transfer or balanced. The second technique helps us to assess the presence of specific genes that cause mono genetic diseases qas its name implies, are those involving a single gene. Such diseases are transmitted from generation to generation and its prevention is possible through genetic diagnosis. Familiar examples of such diseases are Huntington's chorea, cystic fibrosis and Fragile X Syndrome, For these diseases, CONCIBE has the possibility to pre implant genetic diagnosis; if you want to know more about other diseases that can be diagnosed before pregnancy; you are welcome to see the attached List of mono disease gene.

3.- Embryo Transfer: While analyzing the embryo, it continuous its cultivation and two days after the result, normal embryos are put into the patient and the remaining cryopreserved

 

 
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