Genetic diagnosis

I.D.Clinic - Art of Medicine

Генетична діагностика
Treatment of infertility

Genetic diagnosis

Chromosomal and genetic pathological changes can cause infertility and miscarriage.
Hereditary diseases occur due to disturbances in the processes of preservation, transmission and implementation of genetic information. The main cause of hereditary diseases are chromosomal and genetic structural and functional disorders.
To identify genetic abnormalities, during a normal pregnancy, the so-called prenatal (that is, prenatal) diagnosis is used. Disadvantages of such diagnostics are either invasiveness and the risk of complications, or in the case of non-invasive analysis – diagnosis of only the most common genetic disorders.

That is why an alternative is a genetic test for future parents. Couples who have decided to have children in the traditional way will be able to find out their initial genetic situation - karyotype - thanks to this test. And if it turns out that one or both parents are carriers of a mutation that can seriously affect the fetus, this knowledge will allow them to take appropriate measures to give birth to a healthy child.

Why is it important for us?

Until now, future parents had the opportunity to be tested only for some very specific diseases that occurred earlier in the family history. Most often, although each of the future parents has mutations capable of causing monogenic diseases, they are not the same. However, sometimes these mutations coincide, and this means the existence of a high risk of giving birth to a seriously ill child.

The solution in such a case will be in vitro fertilization, which will make it possible to carry out pre-implantation diagnosis of embryos and choose a healthy embryo for transplantation into the uterus.

Pre-implantation analysis (PGT-A)

What is PGT-A? The main task of PGT-A is to assess the state of the embryo in the early stages of development (detection of quantitative chromosome disorders - aneuploidy) and selection of a healthy embryo for embryo transfer. At the same time, the chance of pregnancy significantly increases and the number of unsuccessful IVF cycles decreases, and therefore the time to pregnancy and the birth of a genetically healthy child is shortened.

The probability of chromosomal abnormalities with each new pregnancy in the same family is always average (from 1 in 500 - 1,500 for Down syndrome and Klinefelter and 1 in several thousand for others).

How does the analysis take place?

On the 5th day of cultivation, 4-5 trophoectoderm cells are selected from blastocysts for genetic research. At this time, the recovery of selected cells occurs quickly and without consequences - the diagnostic procedure does not damage the embryo. This is extremely important for those couples who managed to get only 1-2 embryos after stimulation.

Advantages of conducting PGT-A in the protocol of in vitro fertilization:

  • the probability of pregnancy in the program increases to 69% in the general group, to 65% in the older age group;
  • the risk of having children with chromosomal pathologies and deviations is minimized;
  • transfer of only one embryo reduces the risks of miscarriage.

The most modern and most accurate method of genetic testing of embryos for aneuploidy (PGT - A) is the method of next generation sequencing (Next Generation Sequencing) - NGS.

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Anastasia Yakushina
Anastasia Yakushina
Oksana Dababseh
Oksana Dababseh
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