It is difficult for ordinary people to imagine thatThe future mother feels if by results of US or biochemical screening tests at the kid have revealed risk of genetic anomalies. And although only in 1 out of 10 cases such a diagnosis is confirmed by a more detailed examination, it is the need for re-diagnosis that frightens pregnant women most.
The fact is that for refutation orConfirmation of a terrible diagnosis requires an analysis of the fetal karyotype, for which the vast majority of clinics use invasive methods of sampling the material for the study - chorionic villus sampling, amniocentesis fetal collection and blood sampling from the umbilical cord (cordocentesis). In addition to the trouble of the procedure itself, it can have the most unfortunate consequences, among which interrupted pregnancy. This factor causes some women to abandon such a diagnosis and thereby expose themselves to a stressful condition throughout the duration of pregnancy, which can not but affect even a perfectly healthy child.
Why do fetal karyotype analysis?
In the context of prenatal diagnosis after the 11thThe pregnancy is administered by ultrasound. Together with ultrasound, biochemical markers are further investigated. The purpose of these procedures is to determine the so-called risk group. However, such a diagnosis can show only a small percentage of the likelihood of genetic disorders and it is impossible to put an affirmative diagnosis on its results.
With the help of a detailed analysis of the karyotype of the fetus, it is possible to determine with a high degree of probability the following chromosomal abnormalities, which in medical practice are called syndromes:
Noninvasive method of diagnosis of chromosomal pathologies
At the end of the last century in the blood of a pregnant womanFetal DNA was detected. However, only 20 years later, with the development of nanotechnology, a noninvasive prenatal DNA test was used in practical medicine. The essence of the method consists in isolating the extracellular DNA of the fetus and the mother from the venous blood of the mother and then diagnosing it for the presence of chromosomal abnormalities. This study is called the diagnosis of major trisomy or DOT test.
The main advantage of the DOT test isAbsolute safety for a woman and her child. In addition, it can be carried out at any time after the 10th week of pregnancy, and the results will be ready after 12 days with 99.7% confidence. Such a diagnosis is primarily shown to women who are at risk of primary prenatal diagnosis.
Only a few laboratories in China, the US and RussiaUse this method in practical medicine. In our country, the DOT test can be done only in the laboratory of "Genoanalyst", the specialists of which are developers of such technology. To realize the availability of such an analysis for women from any locality in Russia, blood collection can be done at the nearest medical center, after which the biomaterial is delivered to Moscow with the help of a special courier service to conduct a DOT test.
Take care of the health of your baby before he is born. Health to you and your future children!