Cystic fibrosis (cystic fibrosis)

Chronicle

2023: Russia learned to detect cystic fibrosis during IVF

Scientists from the Tomsk National Research Medical Center (NMIC) of the Russian Academy of Sciences have developed technology that will help identify such a severe hereditary disease as cystic fibrosis at the stage of in vitro fertilization (IVF).

Previously, cystic fibrosis could only be detected during the already advanced pregnancy. As a result, families faced a choice: to have an abortion or give birth to a seriously ill child. The panel of genetic markers developed by scientists from Tomsk allows, even before conception, to determine whether parents are carriers of a dangerous disease and prevent the appearance of the disease in the fetus.

Tomsk has developed technology that will help identify severe hereditary diseases at the IVF stage

Preimplantation testing implies the use of assisted reproductive technologies. The family enters the IVF cycle, then each of the resulting embryos is tested by geneticists. Testing can be carried out not only for cystic fibrosis, but also for other severe diseases inherited in the family, - explains the essence of the use of new markers Gulnara Seitova, chief physician of the Medical Genetic Center of the Research Institute of Medical Genetics of the Tomsk Research Center for Medical Genetics.

According to the center's specialists, preimplantation genetic testing will help families where parents are carriers of cystic fibrosis, with the help of geneticists, plan a pregnancy in order to give birth to a healthy child.

The center notes that scientists at the Tomsk Research and Development Center and the Medical and Genetic Center have been working on the development of a new diagnostic method for several years. Before that, there was no single panel of disease markers and some clinics that conducted preimplantation testing for cystic fibrosis in different countries independently chose ways to detect the disease. Tomsk specialists managed to create an extensive unified panel of markers, which allows you to accurately recognize the disease at the embryonic stage, added to the National Medical Research Center.^[1]

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