Identify the pathology of the fetus has become easier. DOT test

The birth of a child is a great happiness in the life of a family. And of course, every mother first of all wants her child to be born healthy. Here, of course, planning of pregnancy, lifestyle, proper nutrition of a pregnant woman are very important. But, unfortunately, this is not enough. The health of the unborn child depends on genetic factors. Today, doctors have the opportunity to identify chromosomal abnormalities in the fetus in the very early stages of pregnancy. We are talking about this with a geneticist, a doctor of medical sciences, a professor in the department of neurology, neurosurgery and medical genetics of the Russian National Research Medical University. NI Pirogov, Vladimir Shakhtarin.

– Vladimir Vasilyevich, there is a well-known ultrasound scan, which is mandatory for all pregnant women. Is it not enough to identify hereditary disorders in a child?

– Ultrasound is prenatal screening, it is performed from the 11th to the 14th and from the 16th to the 18th week. In addition, biochemical markers are examined. The purpose of screening studies is to identify a risk group. They show only the probability of genetic disorders, and they are not diagnosed. If according to the results of screening tests, a high risk of genetic disorders is detected in the fetus, the woman is usually recommended to undergo an invasive prenatal diagnosis – amniocentesis, cordocentesis, or chorionic villus biopsy to determine if the fetus has chromosomal abnormalities.

“But such procedures can harm a baby.” Is it possible to identify genetic diseases without risk to the child and the mother?

– Yes, indeed, during all these studies there is a risk of abortion. But today there is a non-invasive, absolutely safe for both mother and child method of detecting genetic pathologies – DOT-test – diagnosis of basic trisomy. It can be used to determine whether the fetus has disorders such as Down, Patau, Edwards, Kleinfelter and Shereshevsky – Turner syndromes.

– What is the essence of the test? And when was it created?

– DOT test is based on the DNA of the fetus, which is present in the blood of the mother. This fact of genetics was discovered in the 90s. But since it is contained there in an insignificant amount – about 5%, for a long time, scientists could not research it. Such an opportunity appeared only with the development of modern genetic technologies, in particular with the creation of deep parallel sequencing techniques. DOT-test began to be used in practical diagnostics since 2013

– How is this research done? And when can it be done?

– A pregnant woman takes blood from a vein, fetal DNA is extracted from it and examined. The whole study takes 5-12 days. The DOT test can be carried out in the earliest stages of pregnancy – from the 10th week, and the result will be known by the 12th week. The time factor is very important, because in case of detection of pathology in the early stages, parents can make an informed decision on the preservation of pregnancy.

– How accurate is the DOT test?

– A modern non-invasive method for the early detection of fetal genetic pathologies is a highly accurate study, its reliability is more than 99.7%.

– Who can and should do this test?

– DOT test can be done for all pregnant women, including after IVF, – there are no contraindications for it. But it is especially recommended to go through it in identifying risk in screening programs. Direct indications for the study are considered to be the age of a pregnant woman – after 35 years, as well as the burdened history – when there have already been cases of birth of children with chromosomal abnormalities in the family or one of the parents is a carrier of chromosomal rearrangement.

– Is it possible to perform the DOT test in Russia or for this you need to look for a foreign clinic?

– In our country, unfortunately, there is only one laboratory where the DOT test is carried out. However, with the help of the currently existing logistics programs, pregnant women can donate blood for almost any point of the Russian Federation to conduct this test.

Thanks to the development of advanced technologies in medicine, and in particular in genetics, today’s expectant mother has the opportunity at the earliest gestational age with a 100% chance to find out if her baby is threatened with severe genetic pathologies without risking their health or life. and fetal health. To do this, simply donate blood for the DOT test.

Editorial notes:
1. The article is informational and not intended to promote the service.
2. The interview is posted verbatim, without editing edits from the words of Vladimir Vasilyevich Shakhtarin – doctor of medical sciences, professor, professor of the department of neurology, neurosurgery and medical genetics of the Russian National Research Medical University. N.I. Pirogov.