Genetic analysis
Genetic analysis is a collection of various experiments, calculations and observations, the purpose of which is to determine hereditary traits and study the properties of genes. Doctors recommend that women undergo analysis for genetic compatibility and analysis for genetic diseases at the stage of family planning. Thus, it is possible to predict the health of the unborn child in advance, identify possible hereditary diseases and find ways to solve the pathology problem. As a rule, in practice, women carry out a genetic analysis during a pregnancy that has already occurred, due to which the cause of miscarriage and congenital malformations are revealed.
Indications for genetic analysis during pregnancy
Genetic analysis during pregnancy must be carried out in the following cases:
- At the age of a woman over 35;
- If the family of the mother and father of the unborn child had hereditary (genetic) diseases;
- The previous child was born with congenital malformations;
- When during the period of conception and pregnancy, a woman was exposed to harmful factors (X-rays, radiation, drugs, alcohol, taking certain medications);
- If during pregnancy the expectant mother has had an acute viral infection (ARVI, influenza, toxoplasmosis, rubella);
- If in the past a woman has had miscarriages or stillborn babies;
- All pregnant women at risk, based on ultrasound and biochemical blood tests.
A gynecologist who monitors pregnancy will definitely prescribe a woman an analysis for genetic compatibility and an analysis for genetic diseases if she belongs to the so-called risk group. This age is over 35 years old, when the risk of developing mutations and fetal malformations increases sharply. To avoid the unpleasant consequences of late pregnancy and other risk factors listed above, a woman needs to be tested for genetic compatibility and analysis for genetic diseases.
What is genetic analysis for?
The main areas of laboratory research based on genetic analysis methods are as follows:
1. Analysis of genetic compatibility, which determines paternity, motherhood and other consanguinity;
2. Identification of genetic predisposition to common diseases;
3. Identification of infectious agents;
4. Formation of the genetic passport of the individual.
The genetic compatibility test is also called DNA analysis or paternity test. For its implementation, no medical indications are required, and a genetic compatibility analysis is carried out in a private way, at the request of the parents. Often this type of research is used in divorce, division of property and other litigation. You can also determine the degree of kinship of a child before birth, during pregnancy.
Analysis for genetic diseases gives a 100% result and can reveal a child's predisposition to the following potential health problems:
- Myocardial infarction;
- Arterial hypertension;
- Thrombosis;
- Osteoporosis;
- Diseases of the gastrointestinal tract;
- Bronchopulmonary pathologies;
- Diabetes;
- Diseases of the thyroid gland.
Having done a genetic analysis during pregnancy in time, and having identified violations, you can influence the safe bearing of the fetus and correct the health of the unborn child.
Everyone knows that there are infections that cannot be detected using traditional forms of diagnosis, which are commonly used in the process of monitoring pregnancy. Methods of genetic analysis make it possible to quickly detect the DNA of infectious pathogens in the body, classify them, control their behavior and choose the correct treatment. So, after making an analysis for genetic diseases, you can identify such common pathologies as Down syndrome, Edwards, etc.
The conclusion of an expert geneticist forms the genetic passport of a person using the methods of genetic analysis. This is a peculiar form of combined DNA analysis, which contains data and his profile, the uniqueness of a person. These data can provide invaluable help to a person throughout life, with all kinds of health problems.
Genetic analysis methods
Traditional (non-invasive) methods of genetic analysis are:
1. ultrasound;
2. Biochemical blood test.
Ultrasound of the fetus, as a method of genetic analysis during pregnancy, is carried out for a period of 10-14 weeks. It is at this time that the pathology of the baby can be detected. A blood test (biochemistry) begins at an earlier stage of pregnancy, it helps to identify chromosomal and hereditary (genetic) pathology, if any. If there are suspicions, after a previous genetic analysis during pregnancy, later, at a period of 20 to 24 weeks, a second ultrasound of the fetus is performed. This method of genetic analysis allows you to identify minor defects in the development of the fetus.
If the suspicions are confirmed, the woman is prescribed invasive methods of genetic analysis:
- Amniocentesis (study of amniotic fluid);
- Chorionic biopsy (study of cells that are the basis for the formation of the placenta);
- Placentocentesis (a procedure to identify the consequences after an infection during pregnancy);
- Cordocentesis (examination of umbilical cord blood).
Timely analysis for genetic compatibility and analysis for genetic diseases can identify about 400 types of pathologies out of 5000 possible.
How is genetic analysis done during pregnancy
The main methods of genetic analysis, using fetal ultrasound and biochemical blood tests, are completely safe and harmless methods for both the mother and the child. An ultrasound scan is performed through the belly of a pregnant woman using a special apparatus. Much less often, transvaginal ultrasound is used (the device is inserted into the woman's vagina). Biochemical analysis is performed using patient blood, which is taken from a vein.
With invasive methods of genetic analysis, a woman is introduced into the body. So, during amniocentesis, the uterus is pierced with a special needle and the amniotic fluid (amniotic fluid) is taken from it. At the same time, constant monitoring is carried out using ultrasound. Chorionic biopsy is understood as a puncture into the abdominal cavity of a woman to collect material containing the cells necessary for the study (base of the placenta). Sometimes, for this analysis, the contents of the cervix are used. Placentocentesis is usually performed during the second trimester of pregnancy under general anesthesia, as this procedure is considered a major operation. Cordocentesis is a method of genetic analysis during pregnancy, not earlier than 18 weeks. Blood from the umbilical cord is taken by puncture through the woman's uterine cavity. At the same time, anesthesia is also done.
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