Perhaps the happiest event for every couple is the birth of a child. But, unfortunately, at present, many are faced with the problem of the impossibility of conception. The main reason is the infertility of one of the spouses as a result of possible genetic disorders. This occurs due to changes in the structure of DNA molecules when the number of chromosomes is disturbed, or under the influence of adverse environmental conditions when other genetic mutations occur. To determine all these deviations and avoid future problems, it is important not only to test the pair for genetic compatibility, but to undergo molecular genetic testing.
Importance of determining the karyotype of spouses
One of the most important genetic studies in preparation for conception is the karyotype analysis of spouses. A karyotype is a description of all the signs of chromosomes that are DNA carriers. This analysis allows you to identify genetic diseases or predict the possibility of their occurrence in the offspring. If one of the parents detects an unfavorable set of chromosomes, there is a risk that the child may be born with a severe form of mental retardation or other diseases. It is impossible to change a human karyotype, but with a timely determination of deviations, methods are used to identify the karyotype of the fetus and the possibility of its treatment.
There is also a high probability of pregnancy failure with chromosomal abnormalities. But thanks to the timely identification of the problem and the initial planning of pregnancy, there is a chance of having healthy offspring. In cases where it is not possible to treat one of the spouses, special donor programs have been created to help couples in the birth of a child.
After the karyotype of the spouses is determined, they carry out the diagnosis of chromosomal syndromes - karyotyping. The results of this diagnosis allow us to determine abnormalities in the development of the fetus due to structural changes in the chromosome set of one of the parents. In most developed countries, such an analysis is mandatory before marriage. Of particular importance is the conduct of this analysis in families that have not been able to conceive a child for a long time, or in cases where there have already been miscarriages (an abortion has been performed). To determine the karyotype of a woman in this case is the most important task. That is why carrying out such analyzes is necessary and avoids the birth of children with severe pathology.
Karyotype analysis
The procedure to determine the karyotype of the spouses is completely painless and consists in donating blood from a vein. The results are determined within two weeks and allow to identify deviations of the structure of chromosomes and their number. With good results, the total number of chromosomes in a healthy person is 46, two of which are sexual and are defined as XU in men and XX in women. In frequent cases, chromosomal or gene mutations caused by pathological abnormalities lead to the inability to bear a child and, as a result, to miscarriage or infertility.
From the blood taken in order to determine the karyotype of the spouses, mononuclear leukocytes are sieved, to which active cells capable of dividing are attached. At a certain point, the division process is stopped, the obtained cells are stained and magnified and photographed using a microscope. Staining is performed using various dyes (classical and spectral tests), which allows you to get a visual representation of the full set of chromosomes.
For the best results in the diagnosis and treatment of infertility and other diseases, the best solution would be to contact the center of reproductive medicine. In such centers, spouses can get the advice they need from experienced professionals who will later help you choose the right courses of treatment. The cost of tests and treatment in such centers corresponds to the attention given and convenience and is quite justified in achieving the goal - the birth of healthy offspring.