What is Preimplantation Genetic Diagnosis?
Preimplantation Genetic Diagnosis is the procedure by which a genetic study is performed on embryos both to detect possible genetic alterations and to diagnose chromosomal alterations.
At this point it is important to differentiate that chromosomes are structures found inside each cell and contain genetic information, that is, the DNA of each person. On the other hand, genes are small segments of DNA that contain the information related to the functioning of the cells found in the organism.
At the moment of fertilization between the egg and the sperm, one chromosome of each pair is received from each parent. It is at this time that changes leading to chromosomal alterations may occur.
On the other hand, it may happen that the alteration takes place in a specific gene, in which case the functioning of the organism is affected, giving rise to a disease.
Preimplantation Genetic Diagnosis requires the performance of a previous In Vitro Fertilization (IVF) to obtain embryos that will be later vitrified. Subsequently, they will be biopsied for study usually on their fifth day of development and those that are free of the disease under investigation will be transferred.
There are two main groups of indications for Preimplantation Genetic Diagnosis:
- In the case of couples in which one of their members is a carrier of a specific genetic alteration and to avoid its transmission to future offspring.
- In other situations, such as couples with repeated miscarriages, repeated reproductive failures, parents with some chromosomal alteration, elderly women in whose cases we intend to detect and rule out chromosomal alterations.
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