Karyotypes are .... Where to pass the analysis on karyotype?

People often confuse names and do not understand the differences between chromosomal syndromes and genetic diseases. These terms denote different pathologies. From this article you will find out what is karyotype, what is the peculiarity of chromosomal diseases.

What does the term "karyotype" mean?

Karyotypes are some combinations of chromosomes. Cytogenetic studies for their number and structure are carried out at any age, once in a lifetime. What can be determined in the chromosome during the study:

1. Shape and size.
2. Shoulder length.
3. Presence of additional constrictions.
4. Location of telomeres.

Types of karyotypes

All kinds of living organisms, including humans, have their own karyotypes. This is a combination of all the qualities of chromosomes, the composition of which ensures the normal vital activity of each particular individual of the living world. Karyotype can be:

1. Species, that is characteristic only for this species.
2. Individual - a particular individual.

Normal human karyotype

Diseases that are accompanied by pathological changes are called chromosomal. Genetics studies their features and structure. In the norm of the human chromosome (karyotype) consist of 46 pieces. There are two types in this composition. Sex chromosomes are contained in an amount of 2 pieces. The remaining 22 pairs are non-sexual, they are called "autosomes".

In women, the sex chromosomes are represented by a pair of XX (two large chromosomes), and in men XY (one large and one small). Proceeding from this, the normal karyotype in the beautiful half of mankind has the formula 46XX, and for men - 46XY. Any deviations from these formulas cause various deformities, malformations, miscarriage, infertility, etc.

Karyotype analysis

Karyotype analysis occurs at the stage of cell division, when their sizes change. During this period they are available for recognition. Research on karyotypes is carried out due to the method of special coloration and the subsequent study of chromosomes in a light microscope. This method allows you to see the size and shape, the structure of bodies, as well as primary or secondary constrictions and heterogeneity of sites. For the visual description of changes in chromosomes, an international notation system was developed. First, their number (in figures) is indicated, then their appearance is indicated by sex or autosomes, and the next entry is features (mostly the length of the shoulder).

All images in a microscope are photographed to fix the changes, and for the totality of all the frames, a complete picture is finally made up. It is very important to pass tests on karyotypes, this will help to identify various pathologies even at the early stages of embryo initiation and development. After all, this affects the birth of healthy offspring.

Types of analyzes for karyotype

There are 2 types of studies on karyotype:

1. Determination of karyotype in leukocytes. This study is conducted for adults to find or exclude chromosomal pathology. After all, if it is confirmed, then in future generations genetic disease can appear . For this analysis, the patient must donate blood to the karyotype.
2. Prenatal examination. This analysis is performed in utero to determine chromosomal pathologies in the fetus. It is very important for future parents to do this analysis, check karyotype. The price for it though frightens off, but it is necessary to find means and to make research. Some results of the analysis show abortion, since fetal pathology can be incompatible with life or in the future will bring severe, irreparable consequences.

Who needs to take the karyotype test?

In many countries, the study of a karyotype is a prerequisite before marriage. And this is correct, because any person can have a change in the structure of chromosomes, which does not affect his health. But this can manifest only when planning pregnancy.

As with all other tests, there are relative and absolute indications for determination. The first group includes:

1. The presence of genetic pathology in one of the spouses.
2. Constant spontaneous miscarriages.
3. Birth of a child with genetic pathology.
4. The age of the future mother or the woman planning pregnancy is over 35 years.
5. Effects on the body of various pathogenic factors, such as radiation, chemicals, etc.
6. Violation of sexual development.

Relative indications for delivery to karyotypes are optional predispositions. Analyzes in such cases it is desirable to hand over.

What can I find out when I pass the karyotype test?

After completing this research, you can learn a lot about your genetic health. The first and most pleasant is the conviction that the person is healthy. Any change in the karyotype indicates a deviation from the norm. This type of research will help to find out:

1. Causes of various disorders in children, such as delayed development, impaired intelligence, premature termination of growth, etc.
2. Identify the risks of birth of offspring with genetic diseases.

In addition, this analysis makes it possible to recognize various chromosomal diseases. There are pronounced formulas, that is karyotypes of syndromes, such as:

1. Down Syndrome. This disease is formed in the womb of the mother by 47 chromosomes. In 21 pairs, an additional unit is found, which is responsible for the disease.
2. Polysomy on the X chromosome.
3. Syndrome Patau.
4. Different vices.
5. Cats scream syndrome , etc.

Karyotype with anomalies is found in about 1% of all newborns. These disorders lead to mental retardation, various pathologies and even death. Cases of abnormalities increase with the age of the mother. This indicator affects the risk of developing a child's Down syndrome. In a pregnant woman under the age of 35 this risk is 1: 1000, to 40 years -1: 200, and after 45 - 1:19.

Where it is possible to make the analysis on karyotype?

Despite the fact that this research is known to many and quite common, some are asking: where to pass the karyotype and where is this analysis taken? This procedure is rather laborious and, accordingly, expensive, therefore it is not carried out in district clinics. But in every big city there is an institution where the analysis for karyotype is given, it is enough to receive a referral from the attending physician. Such organizations include:

1. Family planning centers.
2. Medical genetic institutions.
3. Modern laboratories conducting various studies.
4. Centers of motherhood and childhood.
5. Private clinics.

To prevent an unfavorable outcome of pregnancy and identify the cause of infertility, you need to carefully study the chromosome set of both spouses. Modern detection of karyotypic disorder allows us to apply methods through which it is possible to give birth to a healthy child.

One of the main reasons for changing the karyotype is "incorrect" spermatogenesis. Some spermatozoa with broken structure participate in the fertilization of the egg. They can cause the embryo with a modified karyotype. In addition, the appearance of disturbances is affected by a bad ecological situation, which provokes a chromosome mutation. And they, in turn, negatively affect the change of the human karyotype. These mutations are inherited, so do not risk the health of your unborn child and disregard the analysis of this kind.