Genetic diagnosis in the pgd-preimplantation period

Genetic research (PGD = preimplantation genetic diagnosis) done before embryos are placed in the mother’s womb can be used during in vitro fertilization procedures. This method reduces the risk of individuals with serious hereditary diseases having a child with the same disease. This technique is a controversial topic, which has also brought up gender selection and genetic engineering. It is a procedure that has not entered into routine practice yet, but is done subject to the permission of the ethics committees of the hospitals.

For what purpose is it applied?

It can be considered in couples who have had recurrent miscarriages due to a genetic disorder and have been exposed to psychological trauma, or in couples who have a child with a genetic disorder and are likely to have another child in the same condition. The number of genetic disorders that can be diagnosed with PGD will exceed 200 in the near future.

How is it applied?

One cell is separated from each embryo and examined under the microscope. The results are visible within 1-2 days and only normal embryos are placed in the uterus. Not all defects can be detected with this technique.

When is it done?

It was first made in 1989. It has since been successfully applied in the diagnosis of various genetic diseases. In genetic diseases where the gene structure is known (eg cysticfibrosis, Tay-Sachs), the gene structure of the embryo is examined. Some disorders occur only in males (eg Duchenne muscular dystrophy, hemophilia). In this case, even if the defective gene structure is not known exactly, it can be placed only by looking at the sex of the embryo and by selecting the female ones. In patients who have consecutive children with severe chromosomal abnormalities (such as Down syndrome), the numbers and characters of many chromosomes of the same embryo are determined.

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