Prenatal testing can be done in Moscow for free


The first results of a large-scale project to identify hereditary genetic diseases were summed up in the capital. The so-called NIPT analysis is needed for parents who want to know everything about the health of their unborn child. The test allows you to determine pathologies that are not visible on ultrasound.

When the family council decided that a third child was needed, dad thought that he needed another job. Because with the first babies, my mother did non-invasive prenatal testing for chromosomal abnormalities. It was very expensive. When we learned that NIPT in Moscow is free, we were extremely happy. Ekaterina Kuznetsova says that it was important for her to know that everything was in order. Her husband Eugene confirmed: parents are safer if the child does not have socially significant pathologies.

You can also, without guessing by ultrasound, immediately and absolutely accurately find out the sex of the unborn child, starting from the 10th week. Fetal DNA is isolated from the mother's venous blood. The essence of the method lies in the study of non-cellular DNA fragments that float in the blood plasma. NIPT is a screening test with information accuracy of more than 99%. It determines the risk of diseases such as Down syndrome, Edwards, Patau, as well as conditions caused by the absence or extra chromosome X or Y. That is, it recognizes what you cannot see on a conventional ultrasound. Unlike biochemical screening, this is a direct method that clearly determines the amount of DNA.

“Our DNA is double-stranded, it is coiled into a helix in the chromosome. NIPT is just looking at major chromosomal rearrangements,” says Olesya Sagaidak, head of the scientific and medical department of the Evogen company, candidate of medical sciences.

Until recently, such diagnoses could be confirmed or refuted only after invasive prenatal diagnostics, and this is an intervention during which there is a risk of termination of pregnancy. NIPT does not completely replace such a diagnosis, but it significantly reduces the number of women who need an unsafe procedure. With the advent of NIPT, the field of prenatal testing has been revolutionized.

"What is special about Moscow's experience? Unlike other countries, we can optimize our work, single out groups of patients who are subject to examination," confirmed the chief freelance specialist in obstetrics and gynecology of the Moscow Department of Health, head of the Perinatal Center of the City Clinical Hospital No. 24 Moscow, Ph.D. Anton Olenev.

The program for the detection of hereditary genetic diseases, together with the Moscow Department of Healthcare, is being implemented by the Evogen genetic laboratory. At the first stage of the project, nearly 13,000 blood samples from pregnant women were analyzed.

Associate Professor of the Department of Medical Genetics of the Russian Medical Academy of Science and Technology, Medical Director of Evogen LLC, Ph.D. Elena Baranova says that before, almost a third of pregnant women were at risk. Now 10.6 thousand studies are planned, but they include the same number of chromosomal pathologies as in the previous project.

The project is funded by the Moscow government. This is the first, and there are plans for another one, which will allow introducing a whole range of additional highly reliable diagnostic methods into the capital's healthcare. For example, chromosomal microarray analysis. This makes it possible to identify additional hundreds of diseases.


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