Genetic analysis in pregnancy planning: description, features and recommendations

To plan for the continuation of the family, modern families are not taken seriously. Preparing for the acquisition of the most important and responsible status in life - the parent - requires the most scrupulous approach. Of course, we are talking about the health of future mothers and dads. To understand this issue will help a comprehensive medical examination, which necessarily includes genetic tests.

When planning a pregnancy, not only women, who in the recent past doctors, whispering, were called "old-timers", are sent to hand over their pregnancy . Today, scientists in the field of genetic engineering have come to the conclusion that women older than 25 years of age should also undergo such a diagnosis.

Basic genetic tests for pregnant women

During the gestation of the fetus, it is extremely important to keep placental lactogen under control . Genetic analysis in the planning of pregnancy can determine its level - it depends on it the probability of spontaneous miscarriage, the further development of pregnancy, as well as its negative course in the form of fetal hypotrophy or complete fading.

An important definition is the chorionic gonadotropin. The level of this hormone allows you to determine pregnancy at the earliest possible time. Such genetic analysis in the planning of pregnancy (its price is not so great as to risk its own health and the life of future crumbs) is carried out in the blood serum.

The results of the study will help the obstetrician-gynecologist to ascertain the degree of threat of interruption of the expected pregnancy and the probability of complications in the uterus.

The role of genetics in the planning of pregnancy

Genetic analysis in pregnancy planning includes other studies that allow to adequately assess the risks of various pathologies that can arise from the moment of conception and the formation of an embryo. The cost of such research is sometimes the only obstacle to their passage, but the benefits that they carry in themselves, it is almost impossible to overestimate.

The question of the usefulness of the future baby is worried not only by the mother who nurses him 9 months under the heart. With hereditary diseases and intrauterine developmental anomalies, an average of every 20 children appears on the average. To great regret, not a single married couple can insure their future descendant from acquiring any vices. Prevent this or that deviation at the level of DNA cells a priori impossible. In addition, the problem is also that the genetic analysis of blood in the planning of pregnancy, showing acceptable results, sometimes does not guarantee the positive development of events: the probability of new mutations in sexual parental cells, including the risk of the transition of normal genes to pathological , Remains always.

Who should pass the genetic tests first?

Advantages of timely medical genetic counseling and methods of prenatal diagnosis are help in planning pregnancy and preventing the birth of a baby with incurable pathologies.

Not many young families who dream of becoming parents in the near future know about what genetic tests they need to undergo in planning a pregnancy. In addition, certain groups of people need to undergo a test well before the onset of pregnancy. These categories include men and women who are in the zone of genetic risk, namely:

• Couples, where in the history of at least one of the spouses there are serious diseases in the genus;
• One of the spouses, in the history of the genealogical tree of which there were incidents of incest;
• Women who had miscarriages, gave birth to dead children, or had a diagnosis of "infertility" without a specific medical diagnosis;
• Parents who came into contact with radiation, harmful chemicals;
• Women and men who at the time of conception used alcohol or medicinal teratogenic agents that could potentially cause fetal malformations.

At what age should I take tests for chromosomal pathologies?

How much is the genetic analysis when planning pregnancy, and women who are under the age of 18, and those over the age of 35, and men who crossed the 40-year threshold, also know. As already mentioned, the risk of mutations in individual genes and DNA cells increases in arithmetic progression with each lived year.

To hand over the genetic analyzes at planning of pregnancy in an ideal follows all couples without an exception.

To date, the multiplicity of hereditary ailments transmitted from generation to generation is the main reason for the need for research to all young couples without exception. In addition, modern genetics without a stop every year continue the discovery of more and more new diseases.

Genetic examination is an important step in the planning of pregnancy

Of course, it is impossible to envisage in the organism of future parents all genes that have the potential for mutation. No genetic analysis in the planning of pregnancy can give an absolute guarantee that a particular married couple will have an absolutely healthy baby without hereditary deviations. Meanwhile, to clarify the degree of risk is vital for the theoretical and actual preparation for pregnancy.

So, potential parents turned to the medical and genetic center for help. How will the specialists conduct the examination, and what genetic tests do they need to pass when planning pregnancy? The curiosity of many will help satisfy the following.

Important points for geneticists

The first stage of the survey is medical genetic counseling by a specialist, during which the doctor carefully and in detail studies the features of the pedigree in the family of each potential parent. Special attention of medical geneticists deserve the factors of increased risk for the future child. They are:

• Genetic and chronic diseases of mother and father;
• Medicines used by potential parents;
• Conditions and quality of life, living conditions;
• Features of professional activity;
• Ecological and climatic aspects, and so on.

Strange as it may seem, but an important role for geneticists has answers to common, usual blood and urine tests, the conclusions of some narrowly specialized specialists (endocrinologist, neurologist, etc.). It is not uncommon for specialists to assign karyotype diagnosis to married couples. Determine the number and quality of chromosomes in future mothers and dads is extremely important in the case of incestuous marriages, miscarriage of several pregnancies, diagnosed, but unexplained infertility.

How much is the genetic analysis?

The cost of genetic analysis of pregnancy planning, called "HLA-Typing", varies from 5000 to 9000 rubles in different Moscow medical-genetic centers, depending on the breadth of the spectrum of the study of predisposition to pathologies.

The completed study will help the geneticist to draw an objective conclusion about the likelihood of exposure to negative factors. Genetic analyzes in the planning of pregnancy will make it possible to compile an individual, relatively accurate prediction about the state of health of future crumbs. It is a study of this type that will help to say about the alleged risk of a specific hereditary ailment in a child. The doctor will be able to give useful recommendations, which should become the basis for a couple who dream of becoming a full-fledged healthy kid.

Risks of birth of genetically ill children

In addition, each analysis is assigned to the value determining the risk in the presence of a predisposition. Genetic diseases of pregnancy planning, or rather the probability of their appearance in future crumbs, are measured as a percentage:

1. At low risk (up to 10%) parents have nothing to worry about. All tests suggest that this married couple will have a healthy child in all respects.
2. At an average rate (10 to 20%), the risk increases, and the possibility of producing a sick baby is almost equated with the probability of the birth of a full-fledged child. Such pregnancy will be accompanied by thorough prenatal control over the nurturing woman: regular ultrasound, a chorionic biopsy.
3. At high risks (from 20%) doctors will recommend to the married couple to refrain from conception and not to allow pregnancy. The probability that a baby with a genetic disease will be born is much higher than the chances of a healthy child born. As an alternative solution in this situation, specialists can suggest that a couple use a donor egg or sperm in accordance with the ECO-program.

Studies in early pregnancy

Despair of parents in any case is not worth it. The chances for the birth of an absolutely healthy baby remain even at high risk. To understand what genetic analysis gives in planning pregnancy, it is worth paying attention to the laboratory diagnostic measures of malformations at the initial stages.

Almost from the moment of the long-awaited pregnancy for many parents, you can find out, is everything okay with the fetus? To find out whether there are any hereditary genetic diseases in the baby, it is possible in utero.

Methods of genetic diagnosis of pregnant women

To use doctors are capable of many techniques and techniques for objective diagnosis of a pregnant woman and a fetus. Indeed, the presence of malformations and developmental anomalies can be judged long before the baby is born. With each passing year, the progress of ultrasound and laboratory techniques increases the chances of accuracy. In addition, in the past few years, doctors have given priority to diagnostic methods such as screening. It is a "large-scale" electoral survey. Screening is mandatory for all pregnant women.

You need to give genetic tests to everyone!

Why is it necessary to take genetic tests even for those who do not fall into risk groups? The answer to this question is caused by disappointing statistics. For example, children born with Down syndrome in mothers over the age of 35 years, only half. Among the remaining half of women in childbirth, there are many young women who have not reached even 25 years of age. In women who became mothers of children with chromosomal pathology, only 3% had a record in the exchange card about the birth of previous children with similar diseases. That is, there is no doubt that genetic diseases are not a consequence of the age of the parents.

Avoid the passage of tests to identify chromosomal pathologies in the fetus or a predisposition to the emergence of genetic abnormalities in the future, not yet conceived the baby should not. To determine the presence of any diseases at an early stage of their development means to get ahead of pathology. Considering the possibilities of modern medicine, it would be unfair and irresponsible to him not to make such a step towards the long-awaited crumb.