Technology for preimplantation genetic testing for cystic fibrosis has been developed in Tomsk


Tomsk scientists have developed a panel of genetic markers to detect cystic fibrosis even before pregnancy. This will help families in which the disease is inherited to give birth to a healthy child.

Scientists and doctors from the Genetic Clinic and Research Institute of Medical Genetics of the Tomsk National Research Medical Center of the Russian Academy of Sciences have developed a technology for preimplantation genetic testing (PGT) for cystic fibrosis. A panel of genetic markers makes it possible to identify a severe hereditary disease even before pregnancy, during the procedure of in vitro fertilization (IVF), the press service of the National Research Medical Center reported on November 20.

PGT is aimed at helping families in which cystic fibrosis is inherited to plan a pregnancy and give birth to a healthy child. Previously, only prenatal diagnosis was available in this situation, and if a pathology was detected, families were faced with a difficult choice: terminate the pregnancy or give birth to a sick child.

“Preimplantation testing involves the use of assisted reproductive technologies. The family enters an IVF cycle, then geneticists test each of the resulting embryos. Testing can be carried out not only for cystic fibrosis, but also for other serious diseases inherited in the family,” said the chief physician of the Genetic Clinic of the Research Institute of Medical Genetics, Tomsk National Research Medical Center. Gulnara Seitova. At the same time, according to her, the process is not limited to one IVF cycle. If necessary, the family can go through several such cycles.

Experts note that preimplantation testing for cystic fibrosis is carried out in some clinics around the world, but there was no single panel of markers, and each laboratory independently selected methods for diagnosing the disease. The extensive panel of markers developed by Tomsk scientists makes it possible to use a fairly accurate and unified approach to testing cystic fibrosis at the embryonic stage. The results of the study were published in the journal Medical Genetics.



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