It is difficult for a common person to imagine what the future mother feels if the results of ultrasound or biochemical screening tests in a baby have revealed a risk of genetic abnormalities. 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 point is that in order to refute or confirm a terrible diagnosis, it is necessary to analyze the fetal karyotype, for which in the vast majority of clinics use invasive methods of sampling the material for the study - chorionic villus sampling, amniocentesis (fetal amniocentesis) and cord blood sampling (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 gestation period, which can not but affect even a perfectly healthy child.
Why do fetal karyotype analysis?
In the prenatal diagnosis after the 11th week of pregnancy, ultrasound is prescribed. Together with ultrasound, biochemical markers are further investigated. The purpose of these procedures is to define 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:
- Down;
- Edwards;
- Patau;
- Shereshevsky-Turner;
- Klinefelter.
Noninvasive method of diagnosis of chromosomal pathologies
At the end of the last century, fetal DNA was found in the blood of a pregnant woman. 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 is absolute safety for the 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 within 12 days from 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 Russia use this method in practical medicine. In our country, the DOT test can be done only in the laboratory of "Genoanalyst", whose specialists are developers of such a technology. In order 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 for a DOT test using a special courier service. Take care of your baby's health before he is born. Health to you and your future children!