IVF is not only a weapon of science to solve fertility problems, but also situations related to:

• Chronic miscarriages
• Diagnosis of hereditary diseases

In these cases, we have the possibility through in vitro fertilization to go one step further, and to propose the so-called pre-implantation control of the embryos.

What does pre-implantation embryo screening consist of?

The stages

1. Ovarian stimulation
2. Oepsis
3. Cultivation of embryos to the blastocyst stage
4. Biopsy of embryos at the blastocyst stage (using laser)

In the first case the test is called PGT-A or PGT-SR depending on whether or not there is a disorder in the karyotype of the parents and in the second PGT-M. In PGT-A (Preimplantation Genetic Testing Aneuploidy) and we check if the embryos are chromosomally normal.

Recommended:

• Women with a history of multiple miscarriages and especially if there is persistently a confirmed chromosomal abnormality in the fetus.

• In patients suffering from syndromes such as
o Klinefelter syndrome (47XXY) 1:1000 males
o Turner syndrome (45XO) 1:4000 females
o Jacobs syndrome (47XYY) 1:1000 males

Also, we note that PGT-A can also be applied

• In women who are of advanced reproductive age. Women between the ages of 39-45 are at high risk for all chromosomal abnormalities.
Eg women 39 years old 1: 75, 40 years old 1:60, 43 years old 1:30, 45 years old 1:20 and 46 years old 1:15
• Women who have undergone IVF and have at least 3 failed attempts and without a clear justification for their failure.

At PGT-M (Preimplantation Genetic Testing – Monogenic Disorders), we screen embryos for hereditary diseases, i.e. diseases passed from parents to offspring.

It must be emphasized that in these cases, before the IVF procedure, the karyotype of the parents must be checked, specifically the specific mutation of the gene under investigation, so that the Cytogenetics department can detect it in the embryos of the couple.

1. Philo-linked diseases, in these diseases the pathological gene is located on the X chromosome. Such diseases are:
• Haemophilia A (factor VIII gene): Boys are affected, girls are usually carriers or healthy
• Duchenne muscular dystrophy. (dystrophin gene)
• Fragile X syndrome 1: 4000 men / 1:8000 women

2. Monogenic diseases, where there is a mutation in a specific gene. Such diseases are
• Mediterranean anemia (autosomal recessive trait)
Huntington’s disease (autosomal dominant)

Finally, pre-implantation HLA compatibility testing (crossmatching) is possible for the birth of a child who will become a marrow or stem cell donor for treatment for his sick sibling.

Of course, these options are recommended to couples who wish to have this preselection of embryos either to get answers about the unfortunate results they had in the past and to adjust their plans in the immediate future, or to avoid having children with serious health problems. Of course, this is not accepted by people with moral-religious concerns and inhibitions.