Modern families approach planning of procreation seriously. Preparing to acquire the most important and responsible status in life - the parent - requires the most rigorous approach. Of course, we are talking about the health of expectant mothers and fathers. A comprehensive medical examination, which necessarily includes genetic tests, will help to understand this issue.
When planning a pregnancy, not only women are sent for their delivery, whom in the recent past, doctors, whispering, called "old-born." Today, scientists in the field of genetic engineering have come to the conclusion that women over 25 years of age should also undergo such a diagnosis.
Basic genetic tests for pregnant women
During gestation, it is extremely important to control the placental lactogen. When planning a pregnancy, a genetic analysis can determine its level - the probability of spontaneous miscarriage, the further development of pregnancy, as well as its negative course in the form of fetal malnutrition or complete fading, depend on it.
Important is the definition of chorionic gonadotropin. The level of this hormone allows you to determine pregnancy at the earliest possible date. Such genetic analysis when planning pregnancy (its price is not so high as to risk its own health and the life of the future crumbs) is carried out in blood serum.
The results of the study will help the obstetrician-gynecologist to find out the degree of threat of termination of the expected pregnancy and the likelihood of complications in the uterus.
The role of geneticists in pregnancy planning
Genetic analyzes during pregnancy planning include other studies that adequately assess the risks of various pathologies that may arise from the moment of conception and embryo formation. The cost of such studies is sometimes the only barrier to their passage, but the benefits that they carry in themselves, it is almost impossible to overestimate.
The issue of the usefulness of the future baby is not only concerned for the mother, who has been carrying it for 9 months under her heart. With hereditary diseases and intrauterine developmental abnormalities, an average of every 20 children is born. Unfortunately, no married couple will be able to insure their future descendant from acquiring any vices. It is a priori impossible to prevent this or that deviation at the level of DNA cells. In addition, the problem is also that the genetic analysis of blood during pregnancy planning, showing acceptable results, sometimes does not guarantee a positive development of events: the likelihood of new mutations in the reproductive parent cells, including the risk of normal genes becoming pathological always remains.
Who should be tested first?
The advantages of timely medical and genetic counseling and prenatal diagnostic techniques are help in planning pregnancy and preventing the birth of a baby with incurable pathologies.
Not many young families dreaming of becoming parents in the near future know what genetic tests they have to go through when planning a pregnancy. In addition, certain groups of people need to be examined long before pregnancy without fail. These categories include men and women in the zone of genetic risk, namely:
- couples where at least one of the spouses has a serious medical history in the family;
- one of the spouses, in the history of the family tree of which there were incidents of incest;
- women who have miscarriages, give birth to dead babies or have a diagnosis of infertility without a specific medical diagnosis;
- parents in contact with radiation, harmful chemicals;
- women and men who consumed alcohol or medicinal teratogenic agents during the conception period that could potentially cause fetal malformations.
At what age do chromosomal pathologies need to be tested?
How much does genetic analysis cost when planning pregnancy, both women under the age of 18, over the age of 35, and men who have crossed the 40-year-old threshold know. As already mentioned, the risk of mutations in individual genes and DNA cells increases in arithmetic progression with each passing year.
Ideally, all couples, without exception, should pass genetic tests when planning pregnancy.
To date, the multiplicity of hereditary diseases transmitted from generation to generation is the main reason for the need for all young couples to undergo research. In addition, modern genetics non-stop annually continue to discover more and more new diseases.
Genetic screening is an important step in pregnancy planning.
Naturally, it is impossible to foresee in the body of future parents all genes that have the potential for mutation. None of the genetic analyzes when planning pregnancy can give a 100% guarantee that a particular healthy couple will have a completely healthy baby without hereditary abnormalities. Meanwhile, clarifying the degree of risk is vital for theoretical and actual preparation for pregnancy.
So, potential parents turned to the medical genetic center for help. How will specialists conduct an examination, and what genetic tests will they have to pass without fail when planning a pregnancy? The curiosity of many will help to satisfy the following.
Important points for geneticists
The first stage of the examination is medical genetic counseling by a specialist, during which the doctor carefully and in detail examines the features of the pedigree in the family of each potential parent. Particular attention of geneticists deserve increased risk factors for the unborn child. They are:
- genetic and chronic diseases of mom and dad;
- medicines used by potential parents;
- conditions and quality of life, living conditions;
- features of professional activity;
- environmental and climatic aspects, etc.
Strange as it may seem, the answers to ordinary blood and urine tests, the conclusions of some narrow-profile specialists (endocrinologist, neuropathologist, etc.) play a significant role for geneticists. Often, specialists prescribe for couples a diagnosis of a karyotype. It is extremely important to determine the number and quality of chromosomes in expectant mothers and fathers in the case of incestuous marriages, miscarriage of several pregnancies, diagnosed but unexplained infertility.
How much does genetic analysis cost?
The cost of a genetic analysis of pregnancy planning, called “HLA-Typing”, in various Moscow medical and genetic centers ranges from 5,000 to 9,000 rubles, depending on the breadth of the spectrum of studying a predisposition to pathologies.
The study will help the geneticist to make objective conclusions about the likelihood of exposure to negative factors. Genetic analyzes when planning pregnancy will allow you to make an individual, relatively accurate forecast about the state of health of the future crumbs. A study of this type will help to say about the alleged risk of specific hereditary ailments in the child. The doctor will be able to give useful recommendations, which should become the basis for a married couple who dream of becoming parents of a full-fledged healthy peanut.
Birth risks of genetically ill children
In addition, each analysis is endowed with a value determining the risk in the presence of one or another predisposition. Genetic diseases in pregnancy planning, or rather the probability of their appearance in future crumbs, are measured in percentage terms:
- With low risk (up to 10%), parents have nothing to worry about. All analyzes indicate that this couple will have a healthy child in all respects.
- With an average indicator (from 10 to 20%), the risk increases, and the possibility of having a sick baby is almost equal to the probability of the birth of a full-fledged child. Such a pregnancy will be accompanied by careful prenatal monitoring of the bearing woman: regular ultrasound, chorionic biopsy.
- At high risks (from 20%), doctors will recommend a couple to refrain from conception and prevent pregnancy. The likelihood that a baby with a genetic disease will be born is much higher than the chances of having a healthy baby. As an alternative solution in this situation, specialists can offer a couple to use a donor egg or sperm in accordance with the IVF program.
Studies in early pregnancy
In any case, parents should not despair. The chances of having a completely healthy baby remain even at high risk. To understand what genetic analysis provides when planning pregnancy, you should pay attention to laboratory diagnostic measures of malformations in the initial stages.
Almost from the moment of the long-awaited pregnancy for many parents, you can find out, is everything all right with the fetus? To find out whether there are any hereditary genetic diseases in the baby, you can in utero.
Methods for the genetic diagnosis of pregnant women
Doctors are able to use many techniques and techniques for the objective diagnosis of a pregnant woman and the fetus. Indeed, the presence of malformations and developmental abnormalities can be judged long before the baby is born. With each year the progress of ultrasound and laboratory technology, the chances of accuracy are increasing. 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.
Everyone needs to have genetic tests!
Why is it necessary to take genetic tests even to those who are not at risk? The answer to this question is due to disappointing statistics. For example, only half of children born with Down syndrome to mothers over the age of 35. Among the remaining half of women in labor, there are many young women who have not even reached the age of 25. In women who became mothers of children with chromosomal pathology, only 3% had an entry in the exchange card on the birth of previous babies with similar diseases. That is, there is no doubt that genetic diseases are not a consequence of the age of the parents.
Avoid passing tests to identify chromosomal abnormalities in the fetus or a predisposition to the occurrence of genetic abnormalities in the future, not yet conceived baby. To determine the presence of any diseases at an early stage of their development means to get ahead of the pathology. Given the possibilities of modern medicine, not to take such a step towards the long-awaited crumbs would be unfair and irresponsible to him.