Preimplantation Genetic Diagnosis (PGD)
What is the Preimplantation Genetic Diagnosis?
The Preimplantation Genetic Diagnosis detects and prevents the transmission to the offspring of serious diseases caused by genetic and chromosomal alterations in the embryos, before being transferred to the uterus,which helps prevent babies born free of inherited diseases. There are many types of chromosomal anomalies, but we can classify them as numerical or structural.
The numerical anomalies have one more chromosome or one chromosome less than what would be the normal pair (23 pairs of chromosomes), and the structural anomalies happen when a part of a particular chromosome is missing, is over, has passed to another or it’s inverted
Currently there are two techniques applicable for different cases:
1. PGS o Preimplantation Genetic Screening for aneuploidies.
In English PGD for the screening of aneuploidies: This technique is indicated in patients where all the chromosomes of each of their embryos will be analyzed, in order to rule out anomalies in any of them. These indications can be:
- Advanced maternal age: 35 years or older
- Women who have suffered two or more spontaneous abortions
- Two or more cycles of In Vitro Fertilization failed
- Alterations of sperm meiosis or low count in the number of sperm found in the ejaculat
- Couples with a previous gestation with a chromosomal anomaly
- Implantation failures
2. PGD o Preimplantation Genetic Diagnosis
In this case, the technique allows us to address two types of alterations:
- Monogenic diseases: Both patients, one of them or their family antecedents with a disease located in a gene and look for those embryos free of suffering it.
- Structural alterations: Patients in whom it is known that in some of its chromosomes there is some alteration of its shape (let’s say that a piece of the chromosome breaks or changes place).
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